HLA-B27

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major histocompatibility complex (human), class I, B35
Alleles B*3501, 3502, 3503, . . .
Structure (See HLA-B)
Symbol(s) HLA-B
EBI-HLA B*2701
EBI-HLA B*2702
EBI-HLA B*2703
EBI-HLA B*2704
EBI-HLA B*2705
EBI-HLA B*2706


Human Leukocyte Antigen B*27 (subtypes B*2701-2724) is a class I surface antigen encoded by the B locus in the major histocompatibility complex (MHC) on chromosome 6 and presents microbial antigens to T-cells. HLA-B27 strongly associated with a certain set of autoimmune diseases referred to as the "seronegative spondyloarthropathies". In the general population, about 8% Caucasian, 4% African, 2-9% Chinese, and 0.1-0.5% Japanese have the HLA-B27 antigen. In Northern Scandinavia (Lapland), 24% of people are HLA-B27 positive while 1.8% have ankylosing spondylitis (AS).

Contents

[edit] Serotype

B27 serotype recognition of Some HLA B*27 allele-group gene products[1]
B*27 B27 Sample
allele  %  % size (N)
2701 100 9
2702 67 417
2703 88 26
2704 97 34
2705 97 1197
2706 97 29


HLA B*2702 frequencies
freq
ref. Population (%)
[2] 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 Eastern Andalusia Gipsy 1.5
Tunisia Tunis 1.1
[2] HLA B*2703 frequencies
Romanian 3.2
Kenya Nandi 2.5
CARepublic Mbenzele Pygmy 2.0
Sudanese 1.8
USA 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
[2] HLA B*2704 frequencies
PNG Karimui Plateau 22.5
Taiwan Pazeh 10.9
PNGuinea West Schrader Ranges 9.1
China Tibet Autonomous Region 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
[2] HLA B*2705 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 and 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 Ashkenazi and Non Ashkenazi 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

[edit] Disease associations

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? The literature is inconclusive, though several theories have been suggested and research continues.

[edit] Associated pathology

In addition to its connection with AS, HLA-B27 is implicated in Reiter's syndrome, certain eye disorders such as acute anterior uveitis and iritis, psoriatic arthritis and Crohn's disease. Reiter's syndrome then again, is statistically associated with AS.

[edit] See also

[edit] External links

[edit] References

  1. ^ derived from IMGT/HLA
  2. ^ a b c d Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database: http://www.allelefrequencies.net". Tissue Antigens 61 (5): 403-7. doi:10.1034/j.1399-0039.2003.00062.x. PMID 12753660.