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Bamboo Spine (Ankylosing Spondylitis)

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Links to Articles

* The Burden of Ankylosing Spondylitis by Annelies Boonen, et al.

* 腰酸背痛、身體老覺得僵硬─小心「僵直性脊椎炎」 by 陳思廷

 

Klebsiella is a genus of non-motile, Gram-negative, oxidase-negative, rod-shaped bacteria with a prominent polysaccharide-based capsule. Frequent human pathogens, Klebsiella organisms can lead to a wide range of disease states, notably pneumonia, urinary tract infections, septicemia, ankylosing spondylitis, and soft tissue infections. Klebsiella species are ubiquitous in nature.

 

• Celiac Disease
• Bamboo Spine
• Silk Road Disease
• Lactose Intolerance
• Stevens-Johnson Syndrome
• Nasopharyngeal Carcinoma
• Esophageal Cancer

Treatment: No cure is known for AS, although treatments and medications are available to reduce symptoms and pain.

Physical therapy and exercise, along with medication, are at the heart of therapy for ankylosing spondylitis. Physiotherapy and physical exercises are preceded by medical treatment to reduce the inflammation and pain, and are commonly followed by a physician. This way the movements will help in diminishing pain and stiffness, while exercise in an active inflammatory state would just make the pain worse.

Many with AS find it very difficult to sit or stand for prolonged periods of time, which can be as little as 20 minutes; therefore, many need to alternate times of sitting and standing, as well as times of rest.

Medical professionals and experts in AS have speculated that maintaining good posture can reduce the likelihood of a fused or curved spine which occurs in a significant percentage of diagnosed persons.

 

Research: The majority of patients with AS exhibit the HLA-B27 antigen and high levels of immunoglobulin A (IgA) in the blood. The HLA-B27 antigen is also expressed by Klebsiella bacteria, which are found in high levels in the feces of AS patients. A theory suggests the presence of the bacteria may be a trigger of the disease, and reducing the amount of starch in the diet (which these bacteria require to grow) may be of benefit to AS patients. A test of this diet resulted in reduced symptoms and inflammation in patients with AS as well as IgA levels in individuals with and without AS.

 

Excerpts from Wikipedia.org

An ankylosing spine in which the vertebrae become fused together

Ankylosing spondylitis (AS, from Greek ankylos, stiff; spondylos, vertebrae; 強直性脊柱炎), previously known as Bekhterev's disease, Bekhterev syndrome, and Marie-Strümpell disease, a form of spondyloarthritis, is a chronic, inflammatory arthritis and autoimmune disease. It mainly affects joints in the spine and the sacroiliac joint in the pelvis, and can cause eventual fusion of the spine.

It is a member of the group of the spondyloarthropathies with a strong genetic predisposition. Complete fusion results in a complete rigidity of the spine, a condition known as "bamboo spine".

Signs and symptoms: The typical patient is a young male, aged 20–40, however the condition also presents in females. The condition is known to be hereditary. Symptoms of the disease first appear, on average, at age 23 years. These first symptoms are typically chronic pain and stiffness in the middle part of the spine or sometimes the entire spine, often with pain referred to one or other buttock or the back of thigh from the sacroiliac joint.

Symptoms appear gradually. Initially they are usually not specific for ankylosing spondylitis. The average onset-to-diagnosis lag time has been estimated to be approximately 8.5 years to 11.4 years.

Men are affected more than women by a ratio about of 3:1, with the disease usually taking a more severe course in men than women.

In 40% of cases, ankylosing spondylitis is associated with an inflammation of the eye (iridocyclitis and uveitis), causing redness, eye pain, vision loss, floaters and photophobia. This is thought to be due to the association these two conditions have with inheritance of HLA-B27. Other common symptoms are generalized fatigue and sometimes nausea. Less commonly, aortitis, apical lung fibrosis and ectasia of the sacral nerve root sheaths may occur.

When the condition presents before the age of 18, it is relatively likely to cause pain and swelling of large limb joints, particularly the knee. In prepubescent cases, pain and swelling may also manifest in the ankles and feet, where calcaneal spurs may also develop.

Pain is often severe at rest, but improves with physical activity. However, many experience inflammation and pain to varying degrees regardless of rest and movement.

Ankylosing spondylitis is one of a cluster of conditions known as seronegative spondyloarthropathies, in which the characteristic pathological lesion is an inflammation of the enthesis (the insertion of tensile connective tissue into bone).

 

 

 

HLA-B27

Human Leukocyte Antigen (HLA) B27 (subtypes B*2701-2759) is a class I surface antigen encoded by the B locus in the major histocompatibility complex (MHC) on chromosome 6 and presents antigenic peptides (derived from self and non-self antigens) to T cells. HLA-B27 is strongly associated with ankylosing spondylitis (AS), and other associated inflammatory diseases referred to collectively as "spondyloarthritis".

Spondylarthropathies: The relationship between HLA-B27 and many diseases has not yet been fully elucidated. Though it is associated with a wide range of pathology, it does not appear to be the sole mediator in development of disease. For example, while 90% of people with ankylosing spondylitis (AS) are HLA-B27 positive, only a fraction of people with HLA-B27 ever develop AS. This raises two important questions: why don't all HLA-B27 positive people develop AS, and why do some people who are HLA-B27 negative develop it? There are additional genes being discovered that also predispose to AS and associated diseases. Additionally there are potential environmental factors (triggers) that may also play a role in susceptible individuals.

Associated Pathology: In addition to its association with ankylosing spondylitis, HLA-B27 is implicated in other types of seronegative spondyloarthropathy as well, such as reactive arthritis (Reiter's Syndrome), certain eye disorders such as acute anterior uveitis and iritis, psoriatic arthritis and ulcerative colitis associated spondyloarthritis. The shared association with HLA-B27 leads to increased clustering of these diseases.

Prevalence: The prevalence of HLA-B27 varies markedly in the general population. For example, about 8% of Caucasians, 4% of North Africans, 2-9% of Chinese, and 0.1-0.5% of persons of Japanese descent possess this gene. In northern Scandinavia (Lapland), 24% of people are HLA-B27 positive, while 1.8% have associated ankylosing spondylitis.

 

 

HLA B27 Gene Frequencies

USA Alaska Yupik	11.5
Native American	8.6
Arizona Pima ind.	7.9
Belgium	7.1
Mexico Tarahumara	6.8
Finland	6.1
Ireland South	4.2
India Tamil Nadu Nadar	4.1
India North Hindus	3.8
Croatia	3.7
Portugal North	3.3
Mexico Guadalajara Mestizos	2.9
Czech Republic	2.8
Azores Terceira Island	2.7
Azores Santa Maria & Sao Miguel	2.6
South Korea pop 3	2.5
Cape Verde Northwestern Islands	2.4
France South East	2.3
Morocco Nador Metalsa Class I	2.1
Portugal South	2.0
Spain Eastern Andalusia Gipsy	2.0
Italy North Pavia	1.9
Azores Central Islands	1.8
Bulgaria	1.8
Israel Jews	1.8
Georgia Tibilisi Kurds	1.7
Brazil Belo Horizonte	1.6
Cape Verde Southeastern Islands	1.6
India New Delhi	1.5
Mexico Sonora Seri	1.5

 

HLA B*2702 Frequencies

Population	(%)
Bulgaria	4.6
Bulgaria Gipsy	4.5
Brazil Belo Horizonte	2.6
Romanian	2.2
Czech Republic	1.9
Croatia	1.7
Finland	1.7
Spain E. Andalusia Gipsy	1.5
Tunisia Tunis	1.1

HLA B*2703 Frequencies

Population	(%)
Romanian	3.2
Kenya Nandi	2.5
CAR Mbenzele Pygmy	2.0
Sudanese	1.8
Alaska Yupik Natives	1.8
Senegal Niokholo Mandenka	1.6
Guinea Bissau	1.5
Kenya	1.4
Georgia Svaneti Svans	1.3
India North Delhi	1.1
Ivory Coast Akan Adiopodoume	1.1

HLA B*2704 Frequencies Population (%) PNG Karimui Plateau 22.5 Taiwan Pazeh 10.9 PNG West Schrader Ranges 9.1 Tibet (China) Tibetans 7.0 Taiwan Siraya 6.9 Bulgaria Gipsy 4.5 New Caledonia 3.9 China Guangzhou 2.5 India Mumbai Marathas 2.5 Singapore Thai 2.5 Thailand 2.0 China Inner Mongolia 1.5 China South Han 1.2 Philippines Ivatan 1.0 Taiwan Ami 1.0

 

 

 

 

 

 

 

 

 

 

* Subtypes of HLA-B27: History and implications in the pathogenesis of ankylosing spondylitis by Reveille JD, et al.

Abstract: HLA-B27 represents a family of 38 closely related cell surface proteins (encoded by the alleles HLA-B*2701-39) called subtypes of HLA-B27, most of which have evolved from the ubiquitous HLA-B*2705 (specifically the B*27052 allele). HLA-B27 subtypes are largely characterized by nucleotide substitutions (mostly nonsynonymous) in exons 2 and 3 which encode alpha1 and alpha2 domains ofthe peptide binding groove respectively. Table 1 shows the description of sequences of HLA-B27 allele sequences. The subtypes could have arisen from B*2705 by point mutation (B*2703, B*2709, B*2704), gene conversion (B*2701, B*2702, B*2708) and reciprocal recombination (B*2707) B*2706 could have arisen by interlocus gene conversion. Studies from different parts of the world reveal differences in the population distribution.

 

* HLA Class I-associated Diseases with a Suspected Autoimmune Etiology: HLA-B27 subtypes as a model system by Uchanska-Ziegler B, et al.

Abstract: Although most autoimmune diseases are connected to major histocompatibility complex (MHC) class II alleles, a small number of these disorders exhibit a variable degree of association with selected MHC class I genes, like certain human HLA-A and HLA-B alleles. The basis for these associations, however, has so far remained elusive. An understanding might be obtained by comparing functional, biochemical, and biophysical properties of alleles that are minimally distinct from each other, but are nevertheless differentially associated to a given disease, like the HLA-B*27:05 and HLA-B*27:09 antigens, which differ only by a single amino acid residue (Asp116His) that is deeply buried within the binding groove. We have employed a number of approaches, including X-ray crystallography and isotope-edited infrared spectroscopy, to investigate biophysical characteristics of the two HLA-B27 subtypes complexed with up to ten different peptides. Our findings demonstrate that the binding of these peptides as well as the conformational flexibility of the subtypes is greatly influenced by interactions of the C-terminal peptide residue. In particular, a basic C-terminal peptide residue is favoured by the disease-associated subtype HLA-B*27:05, but not by HLA-B*27:09. This property appears also as the only common denominator of distinct HLA class I alleles, among them HLA-B*27:05, HLA-A*03:01 or HLA-A*11:01, that are associated with diseases suspected to have an autoimmune etiology. We postulate here that the products of these alleles, due to their unusual ability to bind with high affinity to a particular peptide set during positive T cell selection in the thymus, are involved in shaping an abnormal T cell repertoire which predisposes to the acquisition of autoimmune diseases.

 

* Similarities and Differences Between Spondyloarthritis in Asia and Other Parts of the World by Zhang S,

Abstract

 

* Genetic Breakthrough for Spine Condition by Nina Lakhani

Excerpt: A genetic breakthrough into the causes of an incurable spine condition could help tens of thousands of young people to avoid pain and disability. Scientists from the University of Bristol have discovered seven genes involved in ankylosing spondylitis (AS), an auto-immune arthritis that causes debilitating joint pain for 200,000 Britons.

The findings pave the way for better diagnostic tests and new treatments, but could also prove important for other conditions, according to research in Nature Genetics.

Two of the seven genetic mutations are also involved in other common auto-immune diseases including Crohn's disease and coeliac disease. AS affects one in every 200 Europeans, and is three times more common in men than women.

Common symptoms, which tend to manifest themselves in the late teens or early 20s, include episodes of severe stiffness and pain in the lower back, although the pelvis, neck, hip and knees can also be affected.

 

* Interaction Between ERAP1 and HLA-B27 in Ankylosing Spondylitis Implicates Peptide Handling in the Mechanism for HLA-B27 in Disease Susceptibility by David M Evans, et al.

Abstract: Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adults of European descent. Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 × 10−8 in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 × 10−6 overall, with support in each of the three datasets studied). We also show that polymorphisms of ERAP1, which encodes an endoplasmic reticulum aminopeptidase involved in peptide trimming before HLA class I presentation, only affect ankylosing spondylitis risk in HLA-B27–positive individuals. These findings provide strong evidence that HLA-B27 operates in ankylosing spondylitis through a mechanism involving aberrant processing of antigenic peptides.

 

* Unlocking the Genetics and Biology of Joint Disorder Ankylosing Spondylitis by Science Daily

Excerpt: The study identified three regions of the genome -- RUNX3, LTBR and TNFRSF1A -- in which genetic variants were strongly associated with ankylosing spondylitis. In addition, they found a further four which are likely candidates: PTGER4, TBKBP1, ANTXR2 and CARD9.

As well as furthering our understanding of the genetics underlying the condition, the findings also strengthen evidence that a particular process by which signals are transmitted within cells -- known as the IL-23R pathway -- is involved in the disorder and could be a target for drugs.

The study also provided clues as to why a particular genetic variant known as HLA-B27 is associated with the disease. Scientists have known for almost forty years that this variant significantly increases the risk of developing the disease. Nine out of ten people with ankylosing spondylitis carry the variant. Whilst not everyone with the variant develops the condition, those who carry the variant are up to eighty times more likely to develop it than non-carriers. Yet despite this knowledge, the mechanism by which the variant causes the disease is still unknown.

The researchers found that variants of the gene ERAP1 interact with HLA-B27 to affect disease susceptibility -- one of the first confirmed examples of gene-gene interaction seen in humans. For individuals who carry HLA-B27, their risk of developing ankylosing spondylitis decreases by a factor of four if they also carry two copies of the protective variants of ERAP1.

ERAP1 plays a role in breaking down proteins within the body into smaller molecules known as peptides. The gene interacts with HLA-B27 to affect how these peptides are presented to the immune system. This is an essential process for mounting an immune response to invading pathogens, but when it goes awry it can result in the immune system causing inflammation and damaging tissue. The researchers found that some variants of ERAP1 protect against the development of ankylosing spondylitis by reducing the amount of peptide available to HLA-B27 within cells. The researchers believe that inhibiting ERAP1 may help treat the condition.

The researchers also analysed the genetic make-up of individuals with ankylosing spondylitis who did not carry the HLA-B27 variant and found associations with several genetic regions, the first time that associations have been found in HLA-B27 negative individuals. These findings indicate considerable similarity between the way HLA-B27 positive and negative ankylosing spondylitis develop.

 

* HLA-B27 by Arthritis-Symptoms.com

Excerpt: This is a blood test to detect the presence of HLA-B27 on lymphocytes (white blood cells).

In the past, this test was performed using serum that specifically reacts with HLA-B27 on the cells (known as serologic tissue typing). Newer methods are now available that use genetic testing to identify the type of HLA-B27 in a particular individual. The HLA-B27 gene is designated as HLA-B*2701, HLA-B*2702, etc

Spondyloarthropathies are chronic inflammatory disorders that include ankylosing spondylitis, Reiter's syndrome, reactive arthritis, psoriatic arthritis, Crohn disease, and ulcerative colitis. This group of disorders is associated with human leukocyte antigen (HLA) B27 suggesting a possible autoimmune etiology. The strength of the association with the HLA-B27 allele varies among the different spondyloarthropathies and among ethnic groups. The strongest association is with ankylosing spondylitis. HLA-B27 (alleles B*2701-B*2723) is present in >90% of Caucasians with ankylosing spondylitis compared to an 8% frequency in the general Caucasian population.

 

* HLA-B27 Test by Lab Tests Online

What does the test result mean?

If a person is positive for HLA-B27 and has symptoms such as chronic pain, inflammation, and/ or degenerative changes to his bones (as seen on X-ray), then it supports a diagnosis of ankylosing spondylitis, reactive arthritis, or another autoimmune disorder that is associated with the presence of HLA-B27. This is especially true if the person is young, male, and if he experienced his first symptoms before the age of 40.

If HLA-B27 is negative, then the association is not there. This does not, however, mean that the person does not have the suspected condition, as a certain percentage of people with each disorder will be HLA-B27 negative.

• Ankylosing spondylitis: about 90% are HLA-B27 positive
• Juvenile rheumatoid arthritis (JRA): about 80% are HLA-B27 positive
• Reactive arthritis: about 60-85% are HLA-B27 positive
• Isolated acute anterior uveitis: about 40-70% are HLA-B27 positive

Whether or not HLA antigens will be present is genetically determined. Their production is controlled by genes that are passed from parents to children. If a person has a close family member with an HLA-B27 related disease that affects the joints of the spine (AS or other related condition) and is positive for the HLA-B27 antigen, then that person is at an increased risk of developing a similar disease.

 

 

Ankylosing Spondylitis by Michael H. Weisman

 

 

 

Ankylosing Spondylitis: The Facts by Muhammad Asim Khan

 

 

 

Medifocus Guidebook on: Ankylosing Spondylitis by Elliot Jacob

 

 

 

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Scandinavia

 

The prevalence of HLA-B27 varies markedly in the general population. For example, about 8% of Caucasians, 4% of North Africans, 2-9% of Chinese, and 0.1-0.5% of persons of Japanese descent possess this gene. In northern Scandinavia (Lapland), 24% of people are HLA-B27 positive, while 1.8% have associated ankylosing spondylitis.

Lapland is a cultural region in Finland and Sweden, largely within the Arctic Circle in the Cap of the North of the Scandinavian Peninsula. On the North it is bounded by Norway's counties Finnmark and Troms, on the West by the Kjølen mountain range (also the border to Norway) and on the East by the Russian border.

The name Lapland refers to land inhabited by the Sami people, formerly called Lapp people, which is now considered derogatory, who are the minority indigenous people of the region. Due to this, some define "Lappland" as coterminus with Sápmi, the entire traditional area of the Sámi - on the North bounded by the Barents Sea, on the West by the Norwegian Sea and on the East by the White Sea.

However, the Norwegian and Russian parts of the area "Sápmi" are neither formally called "Lapland", nor considered part of "Lapland" by its inhabitants - although in recent times some parts of the area (such as Finnmark) has been marketed as "Lapland" for promoting tourism. Formally, though, the name only survives in Finland and Sweden, where provinces bear the name.

Ethnic Composition of Lapland: While the Sámi are the indigenous population in Lapland, people self-identifying as Sámi are currently a small minority of the Laplanders. Other prominent indigenous groups include Swedes, Finns and Tornedalians.

 

 

* HLA-B27 and Ankylosing Spondylitis Geographic Distribution Versus Malaria Endemic: Casual or causal liaison? by A Mathieu, et al.

Excerpts: The distinctive feature of the strikingly non-homogeneous geographical distribution of HLA-B27 1 ( fig 1A ) is that its frequency is lowest (0%) in the equatorial region and highest (40%) in the arctic and furthest north populations. 2 This is compatible with the hypothesis that HLA alleles in general, and –B27 in particular, have been selected by environmental factors. 3 Accordingly, it has been shown that HLA-B27 is associated with protection from several viral diseases (AIDS, hepatitis C, and influenza). Although a high frequency of HLA-B27 in some areas may be explained by a founder effect, there are features to suggest that negative selection by …

 

* Ankylosing Spondylitis, Aortic Regurgitation, Acetabular Dysplasia and Osteoarthritis of the Hip. An epidemiological survey in a Norwegian Sámi population by Knut Johnsen

Excerpt: It has previously been documented that HLA-B27 is present in about 26% of the Sámi population in northern Norway. In the Caucasian populations of North America and Europe the population prevalence of the disease susceptibility antigen HLA-B27 is approximately 6-10%, while in southern Norway it is 10%. The Chinese and African-American populations have a prevalence of about 2%, while the Japanese population has only 0.2%. The general Finnish population has a B27 prevalence of 14%. In the Caucasian population of Tromsø, northern Norway, 16% were HLA-B27 positive, which indicates a significant genetic contribution from the Sámi and Finnish populations. It also seems that the Arctic peoples have the highest prevalence of HLA-B27. The prevalence of this genetic marker among the Haida Indians in Canada is one of the highest that has been reported (50%). But other Arctic populations, too, e.g. the Inuits, have an HLA-B27 frequency of over 30%.

 

* Finnish HLA Studies Confirm the Increased Risk Conferred by HLA-B27 Homozygosity in Ankylosing Spondylitis by E Jaakkola, et al.

Abstract

 

* Increased Incidence of Alcohol-Related Deaths from Accidents and Violence in Subjects with Ankyolosing Spondylitis by R. Myllykangas-Luosujarvi, et al.

Summary: Subjects with ankylosing spondylitis (AS) have an increased incidence of deaths from accidents and violence, which is due in part, but perhaps not entirely, to the vulnerability of the affected spine to fractures. The present study covered all the 71 subjects (58 men and 13 women) who had died in Finland in 1989 and who were entitled under the nationwide sickness insurance scheme to receive specially reimbursed medication for AS. The death certificates of an earlier cohort study dealing with mortality in AS were also re-examined. Sixteen subjects (14 men and two women) in the 1989 mortality series had died of accidents and violence. Nine of the deaths (three accidents, two suicides and four alcohol poisonings) were alcohol related. The relative risk of such deaths in subjects with AS compared to the Finnish population as a whole was 2.64 (95% confidence interval 1.44–4.84). In the cohort study, 16 deaths had been due to accidents and violence, the expected number being 11.4. Eight of the 16 deaths had been alcohol related. Uncontrolled use of alcohol is an important determinant in the surplus of deaths from accidents and violence in Finnish patients with AS.

 

* Spondyloarthritis Research and Treatment Network by John C. Davis, et al.

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Tunisia, Syria, Iran, Spain, , Israel

 

* Distribution of HLA-B*27 subtypes in Tunisians and their association with ankylosing spondylitis by Ben Radhia K, et al.

Abstract

 

* HLA-B, DR and DQ antigens polymorphism in Tunisian patients with ankylosing spondylitis (a case-control study) by Kchir MM, et al.

Abstract: The objective of the study is to assess the distribution of HLA-B genes, HLA-B27 subtypes, HLA-DRB1 and HLA-DQB1 alleles in patients with ankylosing spondylitis (AS) and in control subjects in the Tunisian population and to compare their distribution with that found in other countries. This is a case-control study that included 100 consecutive patients (85 males/15 females) with AS according to the modified New York criteria and 100 control individuals. HLA-B, B27 subtypes and class II (DR and DQ) typing of all subjects was performed by polymerase chain reaction amplification with sequence-specific primers (PCR-SSP). HLA-B27 was found in 62% of patients against 3% in controls (P = 0.0000, OR = 52.6, 15.6 < CI < 166.7). On the other hand, B*07 and B*51 were significantly decreased in comparison with controls (P = 0.01, OR = 0.3, 0.1 < CI < 0.8 and P = 0.0000, OR = 0.2, 0.1 < CI < 0.4, respectively). Eight B*27 subtypes were identified in the AS group, but the most frequent ones were B*2702 (32%) and B*2705 (24%). Among HLA-DRB1 alleles, a significant increase in DRB1*11 was found in comparison with controls (P = 0.01, OR = 2.2, 1.2 < CI < 4.5). However, DRB1*13 had a negative association with AS (P = 0.01, OR = 0.4, 0.2 < CI < 0.8). For HLA-DQB1 alleles, a significant positive association with DQB1*03 was observed in AS group (P = 0.03, OR = 1.8, 1.0 < CI < 3.4). Multivariate analysis by logistic regression revealed that DRB1*11 and DQB1*03 had no direct links with the disease, but were dependent on the presence of HLA-B27. Moreover, B*07 and B*51 seemed to have independently a negative correlation with AS, but DRB1*13 seemed to depend on B*51. Haplotypes carrying B27 were significantly associated with AS and those carrying B*07 or B*51 were negatively correlated with the disease. In conclusion, our study confirms that B27 predisposes to AS while B*07 and B*51 are negatively correlated with the disease.

 

* HLA-B27 and Its Subtypes in Syrian Patients with Ankylosing Spondylitis by Harfouch EI, et al.

Abstract

 

* Determination of HLA-B27 Subtypes in Iranian Patients with Ankylosing Spondylitis by Nicknam MH, et al.

Abstract: The human leukocyte antigen-B27 is one of the class I molecules of the major histocompatibility complex which is strongly associated with ankylosing spondylitis (AS). The strength of the disease association with B27 varies markedly among racial and ethnic populations. It is an allele family, which constitutes about 31 subtypes, with a considerable geographic and ethnic difference in distribution. It is important to know whether certain subtypes show any preferential association with AS. Because there is no report regarding HLA-B27 subtypes in Iranian patients with AS, the main purpose of the present study was to assess the frequency of subtypes of human leukocyte antigen (HLA)-B27 in patients with ankylosing spondylitis in Iranian populationOne hundred and nineteen AS patients (82 HLA-B27 positive and 37 HLA-B27 negative) were selected for this study. HLA-B27 positive patients were screened by polymerase chain reaction amplification with sequence-specific primers (PCR-SSP) for B*27 subtyping.The results of present study revealed that only two subtypes were detected in Iranian patients, including B*2705 (52 patients, 63.4%) and B*2702 (30 patients, 36.6%). Our results showed a restricted number of HLA-B27 subtypes associated with AS in Iran and an elevated frequency of the B*2705 allele in these patients similar to other Euro-Caucasoid (Aryan) groups in the world.

 

* HLA-B*27 Subtyping by PCR-RFLP in Spanish Patients with Ankylosing Spondylitis by A Fraile, et al.

Abstract: We describe the use of restriction analysis on PCR-amplified DNA for detecting all B*27 subtypes except B*2710 and B*2711 (i.e. from B*2701 to B*2709). After detecting B*27 by Sty I, double digestions consisting of Sty I plus another informative enzyme led to subtype assignment. We used mismatched primers to create restriction sites when necessary. The method avoids group-specific amplifications and other laborious optimization procedures. It was successfully tested on a panel of well characterized cell lines covering different B*27 subtypes. Then, we studied a group of 57 ankylosing spondylitis patients and 746 controls from the south of Spain. B*27 showed a very strong association with the disease (OR=211.27, P=10(-7)). B*2702 and B*2705 distribution in controls (20% and 77.1%, respectively) differed from previously reported data in the Spanish population. We unexpectedly found the B*2707 allele in our population (one control).

 

* Distribution of HLA-B27 Subtypes in Ankylosing Spondylitis in an Israeli Populationby Carmen Alaez, et al.

Abstract

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India, Malaysia, Tuva, Papua New Guinea

 

* HLA-B27 Polymorphism in Mumbai, Western India by S U Chhaya, et al.

Abstract: Human leucocyte antigen (HLA)-B27 encompasses an increasing number of subtypes that show diverse racial/ethnic prevalence in the world. One thousand-one-hundred and seventy unrelated individuals from Mumbai, Maharashtra, Western India were typed for HLA-B27 antigen by serological methods. HLA-B27 positivity was confirmed by polymerase chain reaction using sequence specific primers. High-resolution typing using sequence specific primers for HLA-B27 alleles (B*2701 - B*2721) was carried out in 70 HLA-B27-positive individuals. The frequency of B27 ranged between 1.48 and 9.6% among the caste groups studied. HLA-B27 subtyping identified B*2702 (1.43%), B*2704 (14.29%), B*2705 (70%), B*2707 (12.86%) and B*2718 (1.43%), respectively. The findings illustrate substantial genetic variation and heterogeneity within population groups from India. Extensive subtyping in other Indian caste groups will be necessary to resolve the evolutionary implications of HLA-B27 subtypes and their relationship to disease association in the Indian context.

 

* Spondyloarthropathies in Southeast Asia by Theodorus EW Feltkamp

Abstract: The HLA-B27 associated spondyloarthropathies and particularly ankylosing spondylitis, were thought to be rare in Southeast Asia. Studies in this part of the world reveal that HLA B*2704, which is associated with SpA, is mainly present in Chinese, while HLA B* 2706, which is not, is mainly seen in Malayans. It is important for rheumatologists dealing with both Chinese and Malayan patients to be aware of these B27 subtype differences. They should learn how to deal with HLA-B27 typing and subtyping and how to interpret the results.

 

* HLA-B27 Polymorphism in the Malays by J.S. Dhaliwal, et al.

Abstract:  The frequency of HLA-B27 and its subtypes was determined in 878 Malay subjects. Thirty-five of the subjects typed for HLA-A, -B and -DR were found to be positive for HLA-B27. The frequency of this allele in the Malay population was found to be 3.99%. The subtypes observed and their frequencies are: HLA-B*2704 (19.4%), HLA-B*2705 (5.6%), HLA-B*2706 (72.2%) and HLA-B*2707 (2.8%).

 

* Study of the Most Often Encountered Allele of the HLA-B27 Gene in Tuvinian and Russian Inhabitants of Western Siberia by M L Sartakova, et al.

Abstract:  HLA-B27 gene frequencies and allelic polymorphism were studied in two Siberian ethnic groups: Russians from Novosibirsk (western Siberia) and Tuvinians from Kyzyl (southern Siberia). The HLA-B27 frequencies were determined by means of serologic typing of HLA antigens in 198 Tuvinians and 288 Russians. Molecular typing was performed via hybridization of oligonucleotide probes with amplified DNAs obtained from 30 HLA-B27-positive Russians and 11 HLA-B27-positive Tuvinians. The HLA-B27 gene frequencies in Tuvinians and Russians were 5.5 and 10.4%, respectively. Molecular variants of the HLA-B27 gene were studied in Tuvinians for the first time. The proportions of the HLA-B2705 and HLA-B2704 alleles were found to be 64 and 36%, respectively, in the population studied. The presence of the HLA-B2704 allele indicates a Mongoloid origin of Tuvinians. In the Russian population of Novosibirsk, the HLA-B2704 allele was not found, whereas the proportions of the HLA-B2705 and HLA-B2702 alleles were 76.2 and 23.8%, respectively, which is characteristic of Caucasoid populations.

 

* Assessment of Susceptibility Risk Factors and Course Predictors at Seronegative Spondyloarthropathies (SPA) by Ara A. Beglaryan

... data of transracial gene mapping of HLAB27 subtypes have shown that HLA-B2705 and B2702 were characteristic for Caucasians (HLA- B2705- predominantly for circumpolar and subarctic population, HLA-B2702 - Middle East and North Africa groups: Jews-Arab-Berbers); HLA-B2704 or HLA-B2707 were found exclusively in Asians (Orientals) and HLA-B2703 was overrepresented in West Africa. An association with AS was ascertained for HLA-B27 02, 04, 05, 07 alleles (predominantly for 05, 04 and 02). No data have been reported regarding association of AS and HLA-B2701, 03, 06, 09, 10 and 11. Moreover HLA-B2703, 06 and 09 have certain protective value in terms to contract AS for some population and not for other. For example, in this sense HLA-B2706 and 09 subtypes are absent in AS patient groups of the Thai, Indonesian population (Malaya’s) and Sardinians (only for HLA-B2709) and contrary HLA-B2706 was found in two Chines AS patients. HLA-B2703 is the predominant subtype in West Africa (Senegal, Gambia) where SPA is exclusively rare. However, HLA-B27 (+) three AS patients have recently been found in this population. At the same time no AS case at all was seen in the Fula ethnic group of Gambia where HLA-B27 prevalence was equal six per cent 4 (HLA-B2703 - 32% and HLA-B2705 - 68%). This data suggest the existence of some non B27 derived protective factors reducing the AS prevalence in study population.

In Asian Indians four HLA-B27 subtypes were encountered (02, 04, 05, 07). HLAB2704 (common Oriental subtype) and HLA-B2705 (common Caucasian subtype) were most predominant in control and SPA groups. HLA-B2702 was found in only one patient with acute anterior uveitis. HLA-B2704 was the predominant subtype in the AS male patients while HLA-B2705 occurred most frequently in females with undifferentiated SPA.

 

* The Spondyloarthropathies by John Richens, et al.

Summary: The spondyloarthropathies occur with variable frequency in the tropics. Ankylosing spondylitis, in particular, is thought to be rare in tropical Africa, reflecting a low frequency of the HLA B27 gene. However, in the Melanesian populations of Papua New Guinea where there is a relatively high frequency of HLA B27, ankylosing spondylosis is infrequent. These diverse observations may be related to variations in B27 sub-types.

Reactive arthritis is a common and important form of acute arthritis in the tropics and in Papua New Guinea at least has a strong association with HLA B27. In Africa an increasing prevalence of reactive arthritis may be related to the spread of HIV infection. Extra-articular features such as balanitis and enthositis are helpful pointers to the diagnosis. Disseminated gonococcal infection and tuberculosis must always be considered and treatment offered if doubt exists. The mainstay of treatment of reactive arthritis is, as always, an anti-inflammatory drug, supplemented by hydrocortisone injections; docycline is available for chlamydia-triggered arthritis and chloroquine or dapsone for more chronic, unresponsive cases.

 

* HLA-B27 and Ankylosing Spondylitis Geographic Distribution Versus Malaria Endemic: Casual or causal liaison? by A Mathieu, et al.

Excerpts: The distinctive feature of the strikingly non-homogeneous geographical distribution of HLA-B27 1 ( fig 1A ) is that its frequency is lowest (0%) in the equatorial region and highest (40%) in the arctic and furthest north populations. 2 This is compatible with the hypothesis that HLA alleles in general, and –B27 in particular, have been selected by environmental factors. 3 Accordingly, it has been shown that HLA-B27 is associated with protection from several viral diseases (AIDS, hepatitis C, and influenza). Although a high frequency of HLA-B27 in some areas may be explained by a founder effect, there are features to suggest that negative selection by …

As an example, among islanders of the Pacific area, HLA-B27 ranges from 0% in lowland to 52% in the Papua internal territories (New Guinea) where the ...

 

* HLA-B27 and Ankylosing Spondylitis Geographic Distribution as the Result of a Genetic Selection Induced by Malaria Endemic? A review supporting the hypothesis by Alessandro Mathieua, et al.

Abstract: The geographic distribution of HLA-B27 shows a latitude-related gradient inverse to that of malaria endemic. An apparent exception occurs in New Guinea, a region where malaria is present, but where HLA-B27 frequency shows, however, an orographic gradient antithetic to that of malaria incidence. We therefore suggest that Plasmodium falciparum may have exerted a negative selection on this gene. This might be due to a higher susceptibility to severe forms of malaria, associated with HLA-B27 or other close gene(s). In addition, we suggest here that the same selective pressure that has contributed to reduce the HLA-B27 frequency in some regions has favoured the fixing of newly generated B27 subtypes included in more advantageous HLA haplotypes. In some cases, as for B2709 in Sardinia and B2706 in Southeast Asia, these haplotypes may harbour factors that protect from Ankylosing Spondylitis, an autoimmune disease strongly associated with HLA-B27, thus offering a novel, powerful tool to dissect disease pathogenesis, and to identify additional genetic factors of susceptibility.

 

Papua New Guinea

The current population of the island of New Guinea is about 7.5 million. Many believe human habitation on the island dates to as early as 40,000 B.C., and first settlement possibly dated back to 60,000 years ago has been proposed. The island is presently populated by very nearly a thousand different tribal groups and a near-equivalent number of separate languages, which makes New Guinea the most linguistically diverse area in the world. Ethnologue's 14th edition lists 826 languages of Papua New Guinea and 257 languages of Irian Jaya, total 1073 languages, with 12 languages overlapping. They fall into one of two groups, the Papuan languages and the Austronesian languages. The separation was not merely linguistic; warfare among societies was a factor in the evolution of the men's house: separate housing of groups of adult men, from the single-family houses of the women and children, for mutual protection against the other groups. Pig-based trade between the groups and pig-based feasts are a common theme with the other peoples of southeast Asia and Oceania. Most societies practice agriculture, supplemented by hunting and gathering.

The great variety of the island's indigenous populations are frequently assigned to one of two main ethnological divisions, based on archaeological, linguistic and genetic evidence: the Papuan and Austronesian groups.

Current evidence indicates that the Papuans (who constitute the majority of the island's peoples) are descended from the earliest human inhabitants of New Guinea. These original inhabitants first arrived in New Guinea at a time (either side of the Last Glacial Maximum, approx 21,000 years ago) when the island was connected to the Australian continent via a land bridge, forming the landmass known as Sahul. These peoples had made the (shortened) sea-crossing from the islands of Wallacea and Sundaland (the present Malay Archipelago) by at least 40,000 years ago, subsequent to the dispersal of peoples from Africa (circa) 50,000 - 70,000 years ago.

The ancestral Austronesian peoples are believed to have arrived considerably later, approximately 3,500 years ago, as part of a gradual seafaring migration from Southeast Asia, possibly originating in Taiwan. Austronesian-speaking peoples colonized many of the offshore islands to the north and east of New Guinea, such as New Ireland and New Britain, with settlements also on the coastal fringes of the main island in places. Human habitation of New Guinea over tens of thousands of years has led to a great deal of diversity, which was further increased by the later arrival of the Austronesians and the more recent history of European and Asian settlement through events like transmigration.

Large swathes of New Guinea are yet to be explored by scientists and anthropologists. The Indonesian province of West Papua is home to an estimated 44 uncontacted tribal groups.

 

 

HLA B*2704 Frequencies Population (%) PNG Karimui Plateau 22.5 Taiwan Pazeh 10.9 PNG West Schrader Ranges 9.1 Tibet (China) Tibetans 7.0 Taiwan Siraya 6.9 Bulgaria Gipsy 4.5 New Caledonia 3.9 China Guangzhou 2.5 India Mumbai Marathas 2.5 Singapore Thai 2.5 Thailand 2.0 China Inner Mongolia 1.5 China South Han 1.2 Philippines Ivatan 1.0 Taiwan Ami 1.0

___________________________________________________________________________

 

Taiwan

 

Pazeh

The Pazeh (or Pazih; 巴則海 or 巴宰) people, including the Kaxabu, are the descendants of the Tsouic Pazeh speaking indigenous people from the central Taiwanese areas of Taichung and Miaoli. Due to the processes of acculturation and cultural assimilation, the majority of Taiwanese who identify themselves as Pazeh reside in the Ai-lan district in the central city of Puli, Nantou.

The current Pazih community is located around the Ai-lan (愛蘭) Taiwanese Presbyterian Church, which provides support for the Pazeh cultural revival and political mobilization. The Ai-lan Pazih are currently petitioning Taiwan's government for official status as a recognized tribe of Taiwanese Aborigines.

 

Siraya

The Siraya are an indigenous people of Taiwan. The Siraya settled flat coastal plains in the southwest part of the island and corresponding sections of the east coast; the area is identified today with Tainan City and Taitung County. At least five subtribes make up the group: Mattauw, Soelangh, Baccloangh, Sinckan, and Taivoan.

The Siraya are one of Taiwan's Pingpu peoples—that is, occupants of flat coastal regions rather than mountain areas. Like other indigenous peoples of Taiwan they are ethnically and linguistically Austronesian. The name "Taiwan" originated from the Siraya language. The Austronesian language family to which Sirayan belongs includes most of the languages spoken in the western Pacific, including Polynesian, Indonesian, Filipino and Malaysian.

Modern History: After the port in the Siraya area of Taiwan was annexed in 1683 by Qing Dynasty China, a process of gradual acculturation led to the Siraya language falling out of use. Its last recorded regular use was in 1908, after Taiwan was under Japanese rule. The mother tongue of most Siraya families became Taiwanese, with first Japanese and then Mandarin Chinese learned in schools as the government-mandated lingua franca.

The Siraya maintained many aspects of their culture despite this. A number of families in the Tso-chen, Kou-pei and Chiou-chen-lin of Sinhua Township in particular still identify themselves as Siraya. The family name Wan, often encountered in the region, is a Chinese transliteration of Talavan, a common Siraya surname. A Siraya Culture Association (台南縣平埔族西拉雅文化協會) was established in 1999. In 2002 the reconstructed Siraya language (see below) began to be taught in schools and used in new literature. In 2005 the Tainan County (now part of Tainan City) government established a Siraya Aboriginal Affairs Committee (台南縣西拉雅原住民族事務委員會) and subsidised a glossary, released in 2008, containing entries for over 4,000 Sirayan words.

Efforts have been under way by the Siraya and related Pingpu peoples to gain official recognition from Taiwan's national government. In 2010 the Siraya enlisted the aid of the United Nations. Siraya and Taiwan government representatives have noted a flaw in the language of the law: the Chinese term employed for indigenous peoples literally means "mountain people." A literal reading of the law excludes coastal groups from recognition automatically. Government officials have proposed changing the law to ensure accuracy and inclusion of all indigenous groups.

Language: According to Taiwan Journal, Taiwan's Academia Sinica historians and linguistics announced, on February 14, 2006, that their team of researchers have deciphered up to 80% of the 187 so-called Sinckan Manuscripts (or Sinkang Manuscripts), a set of documents from 17th and 18th centuries written in the language spoken by the Siraya people using a system of romanization introduced by the Dutch in the 17th century. In order to convert the Siraya to Christianity, Dutch missionaries studied the Sirayan language, devised a romanized script in which to record it, taught the Siraya people how to use it, and began translating the New Testament into the Sirayan language. Copies of the Dutch missionaries' translation of the Book of Matthew into Sirayan have survived, and several of the manuscripts are bilingual, with side-by-side Sirayan and Chinese versions of the contents.

 

 

* HLA-B27 and Its Subtypes in 4 Taiwanese Aborigine Tribes: A comparison to Han Chinese patients with ankylosing spondylitis by Chou CT, et al.

 

Atayal

The Atayal (泰雅), also known as the Tayal and the Tayan, are one tribe of Taiwanese aborigines. In the year 2000 the Atayal tribe numbered 91,883. This was approximately 23.1% of Taiwan's total indigenous population, making them the second-largest tribal group. The meaning of Atayal is "genuine person" or "brave man."

Origins: In the past, many anthropologists believed the Atayal migrated from Malaysia or Indonesia. Evidence now suggests that they are the descendants of those who crossed over the Taiwan Strait almost 7,000 years ago from regions that are now inside southern China, northern Laos or Vietnam. The first record of Atayal inhabitance is found near the upper reaches of the Choshui River. However, during the late 17th century they crossed the Central Mountain Ranges into the wilderness of the east. They then settled in the Liwu River valley. Seventy-nine Atayal villages can be found here.

Lifestyle: The Atayal Tribe was a fairly advanced culture. They originally lived by fishing, hunting, gathering, and growing crops on burned-off mountain fields. The tribe also practiced crafts such as weaving, net knotting, and woodworking. They also had traditional musical instruments and dances.

The Atayal were known as great warriors. To earn his facial tattoo, a man had to bring back at least one human head; these heads, or skulls, were highly honored, given food and drink, and expected to bring good harvests to the fields. (See Headhunting) They were known to be fierce fighters as observed in the case of the Wushe Incident in which the Atayal fought the Japanese. A girl would learn to weave when she was about ten or twelve. She had to master the skill to earn her tattoo. Only those with tattoos could marry, and after death, only those with tattoos could cross the utux hongu, or spirit bridge (the rainbow) to the hereafter.The facial tattoo, in Squliq Tayal, is 'ptasan.'

Traditional Dress: The Atayal were good weavers as well and symbolic patterns and design can be found on Atayal traditional dress. The features are mainly of geometric style, and the colors are bright and dazzling. Most of the designs are argyles and horizontal lines. In Atayal culture, horizontal lines represent the rainbow bride which leads the dead to where the ancestors' spirit live. Argyles, on the other hand, represent ancestors' eyes protecting the Atayal. The favorite color of this culture is red, because it represents “blood” and “power.”

The Atayal tribe was also known for using facial tattooing and teeth filing as rituals of initiation. The practice of tattooing their faces has attracted much attention; in the past a man had to take the head of an enemy, showing his valor as a hunter to protect and provide for his people and the women had to be able to weave cloth to show their coming-of-age and maturity before they could tattoo their faces.

Atayal in Modern Times: The Atayal tribe in Taiwan resides in central and northern Taiwan. The northernmost village is Ulay (Wulai in Chinese), about 25 kilometers south of central Taipei. The name Ulay is derived from /qilux/, hot, because of the hot springs on the riverbank . The Wulai Atayal Museum in the town is a place to learn about the history and culture of the Atayal.

In recent years the mainly Christian community of Smangus has become well-known as a tourist destination, as well as an experiment in tribal communalism.

Many Atayal are bilingual, but the Atayal language still remains in active use.

 

 

* Usefulness of Human Leucocyte Antigen-B27 Subtypes in Predicting Ankylosing Spondylitis: Taiwan experience by T.-Y. Hou, et al.

Abstract

 

* The Prevalence of HLA-B27 Subtypes in AS Patients by Jao-An Chen, et al.

Background: Ankylosing spondylitis (AS) is an HLA-B27-related spondyloarthropathy (SpA). Most AS patients carry the HLA-B27 genotype, but only a small fraction of HLA-B27 positive people develop AS. This article describes our attempt to predict the probability of AS in Taiwanese SpA patients who have different HLA-B27 subtypes. Methods: We obtained blood specimens from 251 outpatients suffering from HLA-B27-related SpA. There were 197 AS cases and 54 non-AS cases. We used a standard method PCR-SSOP to determine HLA-B27 subtypes.

Results: We found 4 HLA-B27 genotypes among our patients. Among the 197 AS patients, 191 had the B*2704 genotype, 4 had the B*2705 genotype, and 2 had the B*2706 genotype. Among the 54 non-AS patients, 47 had the B*2704 genotype, 5 had the B*2705 genotype, 1 had the B*2706 genotype, and 1 had the B*2707 genotype. Among our SpA patients, our results indicate a stronger association of the B*2704 genotype with AS, and a stronger association of the B*2705 genotype with the absence of AS.

Conclusion: The results with our population of Taiwanese patients indicate limited usefulness of HLA-B27 subtyping for prediction AS in SpA patients from Taiwan.

 

* Positive Association of Ankylosing Spondylitis with Homozygous HLA-B27, but Protection with B2705 in Taiwan Chinese by 陳昇明, et al.

Abstract: The study was undertaken to determine the effects of HLA-B27 subtypes on susceptibility to ankylosing spondylitis (AS) in Taiwan Chinese. A polymerase chain reaction-restrictive fragment length polymorphism (PCR-RFLP) method was developed for subtyping of HLA-B27. In this series, there are 62 patients with AS who were tested HLA-B27 positive serologically and 738 normal persons over the age of 65. Among the 738 normal controls, 42 (5.7%) were HLA-B27 positive. There were six (14.3%) homozygous for B2704, 18 (42.9%) heterozygous for B2704, 2 (4.8%) double heterozygous for B2704 and B2705, one (2.3%) double heterozygous for B2704 and B2706, 2 (4.8%) homozygous for B2705, 11 (26.1%) heterozygous for B2705, and 2 (4.8%) heterozygous for B2706. In our patients with AS, 37 (59.7%) were homozygous for B2704 and 25 (40.3%) were heterozygous for B2704. The HLA-B27 carrier rate in Taiwan healthy old persons is estimated as 5.69%. Susceptibility to AS is determined by homozygosity for B2704. However, B2705 may be an indicator of protection against AS in Taiwan Chinese.

 

* HLA-B60 and B61 Are Strongly Associated with Ankylosing Spondylitis in HLA-B27-Negative Taiwan Chinese Patients by J. C. C. Wei, et al.

Objectives: Carriage of HLA-B60 has been shown to increase the risk of ankylosing spondylitis (AS) in B27-positive Caucasian patients, but the association in B27-negative cases is less certain. This study assessed HLA class I gene associations in Chinese HLA-B27-negative AS patients.

Methods: Forty-one Chinese HLA-B27-negative AS patients fulfilling the modified New York diagnostic criteria for AS were recruited, and 11 383 HLA-B27-negative blood donors were used for comparison. HLA-A and -B typing was done with the microlymphocytotoxicity assay.

Results: Among the B27-negative AS patients, 21 were male and 20 were female. Of HLA-B alleles, only B60 and B61 significantly increased susceptibility to AS in HLA-B27-negative patients (P<0.001).

Conclusions: In Taiwan Chinese, carriage of B60 is increased in HLA-B27-negative AS patients. The association between B61 and HLA-B27-negative AS patients has not been reported previously. Whether the gene involved is HLA-B60 or B61 or another gene in linkage disequilibrium with these genes is unknown.

 

 

Jay Chou (周杰倫; born 18 January 1979) is a Taiwanese musician, singer-songwriter, music and film producer, actor and director who has won the World Music Award four times. He is well-known for composing all his own songs and songs for other singers. In 1998 he was discovered in a talent contest where he displayed his piano and song-writing skills. Over the next two years, he was hired to compose for popular Mandarin singers. Although he was trained in classical music, Chou combines Chinese and Western music styles to produce songs that fuse R&B, rock and pop genres, covering issues such as domestic violence, war, and urbanization.

A sports injury triggered by an unexplainable and severe back pain eventually led to the diagnosis of ankylosing spondylitis, a hereditary spine inflammation disease at age of 18.

 

* 僵直性脊椎炎 ── 一個常見但被忽略的疾病 by 魏正宗

Excerpt: 在台灣，有5.5%的人帶有HLA-B27基因，這些人當中，有10-20%的機率以後將罹患僵直性脊椎炎。

    如果家中有僵直性脊椎炎患者，與病人有血緣關係的所有家人都應該接受HLA-B27的篩檢。小孩子可以在十歲以後才檢驗。篩檢結果的意義如下，

  (1)如果是HLA-B27陰性----恭喜您，您得僵直性脊椎炎的機率幾乎是零。

  (2)如果是HLA-B27陽性，平常也有關節酸痛，脊椎僵硬等症狀----您可能有僵直性脊椎炎，請到各大醫院免疫風溼科診治。

  (3)如果是HLA-B27陽性，而且家中有僵直性脊椎炎患者，但您目前完全沒有下背病，脊椎僵硬或關節肌腱炎等症狀----您以後罹患僵直性脊椎炎的機率約有20 %(女性) 或60% (男性)，請注意身體的狀況，如有症狀，立刻就醫。

    強調一點，HLA-B27陽性不代表就一定有僵直性脊椎炎，而極少數僵直性脊椎炎(5%)是HLA-B27陰性。所以，有任何懷疑或問題，仍然請到各大醫院免疫風溼科診治。

 

 

強直性脊柱炎

強直性脊柱炎（拉丁文：spondylitis ankylosans，其中spondylitis原為希臘文脊柱炎之意，ankylosans原系希臘文強直之意），又稱僵直性脊椎炎，是一種慢性關節炎（屬中醫之風濕範疇），伴隨有脊柱關節的疼痛和強直癥狀。在歐陸亦稱此病為白赫鐵列夫症（Morbus Bechterew）、白赫鐵列夫-史特林佩爾-瑪麗症（Bechterew-Struempell-Marie-Krankheit）等。英文為Ankylosing Spondylitis，國際簡稱為AS.

強直性脊柱炎屬於脊柱關節症候群，主要影響腰椎、胸椎以及骶髂關節，現在相信與免疫失調及遺傳因子有關。除此以外，強直性脊柱炎尚能引發眼虹膜炎症以及影響到身體之其他器官。

起因: 強直性脊柱炎的起因迄今未能完全了解，但該病似與免疫系統的缺陷有關。如果以醫學方法阻止TNF-alpha因子發揮作用，該病的癥狀得以減輕，可以得知該因子在發病過程中起著重要作用。在發炎的骶髂關節中可見CD4+T-淋巴細胞，細胞毒素T細胞（cytotoxische T-zellen）及噬菌細胞出現，此外TNF-alfa因子的集中率見增高，不過無法確定觸發此現象的觸媒。可能是針對體內軟骨中負責伸展靈活性的Proteoglycan Aggrecan產生了自免疫現象（autoimmunologiesches Phaenomen）。這樣Proteoglycan抗原的一致性，可以解釋疾病在體內分布的現象。在許多患者的血液中還出現了腸內細菌（Enterobakterien）抗體滴定濃度增高的現象，目前尚未弄清此現象與該病有何關聯。 該病的一個特徵是，發病與血液中HLA-B27因子的高度關聯性。這種關聯性在不同人種中出現的頻率揭示了該病在不同人種中發病率的不同。時至今日已比較清楚的是，強直性脊柱炎很大程度上是由基因決定的，因此HLA-B27因子是此病最為人所熟知，但絕不是唯一的基因病因。

病理學: 強直性脊柱炎主要的病程在於關節和腱的炎症，尤其在骨盆和脊柱部位，並伴隨有水腫與骨髓的損傷，並導致骨髓的骨質化。

本症最早期的癥狀之一為骶髂關節的炎症。受累部位包括肌腱附著點以及關節囊。在關節軟骨下方會生長肉芽組織，通過淋巴細胞和巨噬細胞形成浸潤。關節受損的邊緣，首先會通過纖維軟骨（Faserknorpel）所替代，隨後骨質化，由此關節逐漸僵硬化。

在脊椎，此過程會導致骨骼出現韌帶骨贅，並會搭上臨近的脊椎骨。這樣的過程最後可能導致所謂的竹節樣脊柱改變（Bambuswirbelsaeule）的產生。

針對脊柱的其他損傷有骨質疏鬆，椎骨邊緣的過度損耗及炎症以及隨之出現的骨與椎間盤間連接部的損害。

常用的治療法: 主要分三方向

• 消炎止痛－治標: 消炎痛等非甾體抗炎藥（非類固醇消炎止痛藥）解熱鎮痛藥具有較好的效果。柳氮磺胺吡啶對於改善腰背部僵痛及骶髂關節病變有明顯的療效。
• 控制病情－治本: 嚴重的周圍關節病變也可採用氨甲喋呤治療。當髖關節病變嚴重，造成骨性強直和癱瘓時，應早期施行人工髖關節置換術，以恢復功能。:
• 保護關節－保持靈活: 強直性脊柱炎需要長期治療，甚至終身治療，患者應對自己的疾病有正確的認識，積極配合醫生的治療。體療的康復訓練對於本病具有非常重要的意義。適當的行走、睡眠姿勢，腰腹的鍛練可以維持關節的靈活性，呼吸鍛練和游泳的有氧運動有助於維持良好的肺功能。部分患者經過治療後療效不明顯，出現關節僵直，但如果能夠維持在功能位，就可最大限度地保留部分關節功能。

性別與種族差異性: 強直性脊柱炎多發於男性青少年，男女發病的比例約為2.5-5:1.。此外，該病症與民族或種族差異也表現出一定關聯，如黑人的發病率明顯低於黃種人及白種人；而在東亞日本的發病率又明顯低於中、韓等國。

在中國，該病的發病率約為千分之三。

中醫治療: 目前在中國尚採用中醫手法治療該疾病，中醫治療原則是以辨證施治為主，祛風散寒，利濕通絡，活血化瘀，解毒消腫，補腎健骨，調節整體。AS早期以實證為主，以濕熱風寒、瘀血相挾雜為主，晚期則以虛實夾雜，虛證為主，腎虛為本，治療應以滋補肝腎為本，兼顧清熱、活血、祛寒、止痛。有取得較大成功的個案，但整體效果尚待時間檢驗。

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China

 

* The Association of HLA-B*27 Subtypes with Ankylosing Spondylitis in Wuhan Population of China by Liu X, et al.

Abstract: The aim of this study was to investigate the association of the B27 subtypes with ankylosing spondylitis (AS) in the Wuhan population of China. We selected 317 HLA-B27-positive individuals (145 controls and 172 patients with ankylosing spondylitis). The B27 subtypes were characterized using a PCR-SSP method. Six B27 subtypes were determined: B*2702, 03, 04, 05, 06 and B*13. HLA-B*2704 and HLA-B*2705 were the two high frequency genotypes in controls and patients. Compared with the controls, the AS patients had high frequency of B*2704 (patients 69.2% vs. controls 53.8%) and low frequency of B*2705 (patients 23.8% vs. controls 33.1%). B*2703 was detected in 10 (5.8%) patients and in 13 (8.9%) controls. B*2702, 06 and B*2713 were relatively rare. Our results show that the allele conferring risk to AS in the Wuhan population of China was B*2704 and B*2705. B*2704 is strongly associated with AS.

 

* Familial Aggregation of Ankylosing Spondylitis in Southern China by Y. Liu, et al.

Abstract

 

* 某地区维吾尔族强直性脊柱炎患者HLA‐B２７ 亚型频率分布 by 邹红云，et al.

摘　要：目的　探讨新疆维吾尔族强直性脊柱炎（AS）患者HLA‐B２７ 亚型的分布特点。方法　采用PCR‐SBT 法对维吾尔族 AS 患者进行HLA‐B２７ 亚型检测，并与当地汉族及国内其他地区已报道的AS 患者HLA‐B２７ 亚型分布特点进行对比分析。结果维吾尔族AS 患者中B倡２７０５ 表现型频率（５５ ．５６％ ）最高，显著高于本地区汉族AS 患者B倡２７０５ 频率（ P ＜ ０ ．０５） ，也高于国内其他地区报道的汉族AS 患者B倡２７０５ 频率（山东地区６３ ．８９％ 除外） 。维吾尔族AS 患者中B倡２７０４ 表现型频率（２５％ ）是迄今国内报道中的最低频率，明显低于本地区汉族（P＜ ０ ．０５）和国内其他地区报道的B倡２７０４ 表现型频率。维吾尔族AS 患者中还检测到B倡２７０２ 、B倡２７０７ 、B倡２７１０ ３ 种亚型，其中B倡２７１０ 亚型系国内首次报道；本地区汉族AS 患者以B倡２７０４（６５ ．２２％ ）表现型为主，其次为B倡２７０５（２６ ．０９％ ）的特点与国内其他大部分地区汉族AS 患者B２７ 亚型频率分布特点一致。汉族AS 患者中检测到２ 例B倡２７１５ 亚型，系国内第２ 次报道；另检测到B倡２７０２ ／B倡２７０４ 及B倡２７０４ ／B倡２７０５ 存在２ 个位点的纯合子各１ 例，其中B倡２７０２／B倡２７０４ 在国内首次报道。结论　新疆地区的维吾尔族AS 患者HLA‐B２７ 等位基因的表达和频率有着与本地区及国内其他地区汉族人群显著不同的特征。在新疆开展不同民族HLA‐B２７ 等位基因亚型分布规律的调查研究对于人类遗传学研究和分析各类人群遗传背景对AS 疾病易感性的影响将具有重要意义。

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The Wonderful Invalid by Leonard Trask

Leonard Trask (June 30, 1805 – ?) was an American who suffered from a "contortion of neck and spine" during his late 20s after an accident while horse riding, which led to Trask becoming a medical curiosity. After numerous attempts at a cure, several further accidents resulting from his condition, and a loss of employment and mobility, Trask (by then earning small amounts of money as a curiosity) published an account of his condition which further increased his renown. His condition remained unsolved upon his death, but he was subsequently diagnosed post mortem with ankylosing spondylitis (AS).

 

A Brief Historical Sketch of the Life and Sufferings of Leonard Trask, the Wonderful Invalid by Leonard Trask