関: HLA

ベーチェット病：相対危険度8。日本でのベーチェット病患者のHLA-B51陽性率は50-60%、正常者のそれは10-15%。

「日本でのベーチェット病患者のHLA-B51陽性率は50-60%」ここに着目して覚えておこうか

WordNet

the 2nd letter of the Roman alphabet (同)b
the blood group whose red cells carry the B antigen (同)type_B, group B
the 8th letter of the Roman alphabet (同)h

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hydrogenの化学記号
鉛筆の硬度 / 《俗》heroin

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/12/11 09:30:34」(JST)

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B*5101-β2MG with bound peptide 1e27




major histocompatibility complex (human), class I, B51
Alleles	B*5101, 5102, 5103, . . .
Structure (See HLA-B)		Available 3D structures
EBI-HLA	B*5101	1e28, 1e27

HLA-B51 (B51) is an HLA-B serotype. The serotype identifies the more common HLA-B*51 gene products.^[1]

Further information: HLA-serotype tutorial

B51 is a split antigen of the broad antigen B5, and is a sister serotype of B52.^[2] There are a large number of alleles within the B*51 allele group. B51 is associated with several diseases, including Behçet's disease.

Serotype

Serotypes B51, B5, B52, and B53 recognition of some HLA B*51 allele-group gene products^[3]
B*51	B51	B5	B52	B53	Sample
allele	%	%	%	%	size (N)
*5101	96	2	1		1899
*5102	73	3	6	11	218
*5104	83	17			6
*5105	48		16	24	25
*5106	64		7	12	42
*5107	78		9		68
*5108	77			3	154
*5109	86				43
B5102 also reacts to B5102 - 3%, 5103 with B5103
Alleles link-out to IMGT/HLA Databease at EBI

Alleles

There are 71 alleles, 57 amino acid sequence variants in B51 of which 4 are nulls. Of these only 9 are frequent enough to have been reliably serotyped. B*5101 is the most common, but others have a large regional abundance.

**HLA B*5101 frequencies**
		freq
ref.	Population	(%)
^[4]	Bulgaria	20.9
^[4]	Georgia Tibilisi Georgians	15.7
^[4]	India Tamil Nadu Nadar	15.6
^[4]	China North Han	14.8
^[4]	Georgia Tibilisi Kurds	12.1
^[4]	India Andhra Pradesh Golla	12.0
^[4]	China Qinghai Hui	11.4
^[4]	India New Delhi	9.8
^[4]	Madeira	9.7
^[4]	South Africa Natal Tamil	9.2
^[4]	USA Hawaii Okinawa	8.7
^[4]	Cape Verde Northwestern Islands	8.1
^[4]	Cape Verde Southeastern Islands	7.3
^[4]	India Mumbai Marathas	6.8
^[4]	Russia Tuva pop 2	6.1
^[4]	Israel Arab Druse	6.0
^[4]	China Inner Mongolia	5.9
^[4]	Czech Republic	5.7
^[4]	Finland	5.6
^[4]	Iran Baloch	8.1
^[4]	Brazil	5.1
^[4]	Mexico Guadalajara Mestizos	4.9
^[4]	New Mexico Canoncito Navajo	4.9
^[4]	China South Han	4.6
^[4]	India North Hindus	3.8
^[4]	Thailand	3.1
^[4]	Ivory Coast Akan Adiopodoume	2.3
^[4]	Singapore Chinese Han	2.3
^[4]	Singapore Javanese Indonesians	2.0
^[4]	Taiwan Saisiat	2.0
^[4]	Kenya	1.7
^[4]	Cameroon Yaounde	1.6
^[4]	Senegal Niokholo Mandenka	1.6
^[4]	Guinea Bissau	1.5
^[4]	USA Arizona Pima	1.1
^[4]	Venezuela Perja Mountain Bari	1.1
^[4]	Taiwan Pazeh	0.9
^[4]	China Guangdong Meizhou Han	0.5
^[4]	Israel Ashk. & Non Ashk. Jews	0.5
^[4]	Singapore Thai	3.0
^[4]	Iran Baloch	1.0
^[4]	USA Asian	1.0

Disease Associations

By serotype

Bw51 was associated with Behçet's disease,^[5] in endemic (versus epidemic) mucocutaneous lymph node syndrome,^[6] susceptibility to the virus that causes German measles infection.^[7]

**HLA B*5102 frequencies**
		freq
ref.	Population	(%)
^[4]	Mexico Sonora Seri	1.5
^[4]	Thailand	1.4
^[4]	Singapore Chinese	1.3
^[4]	Hong Kong Chinese	1.0
^[4]	USA Natives	0.8
^[4]	Mexico Zaptotec Oaxaca	0.7
^[4]	South Korea pop 3	0.6
^[4]	Shijiazhuang Tianjian Han	0.5
^[4]	China Guangxi Maonan	0.5
^[4]	Japan (5)	0.4
^[4]	USA Asian	0.4
^[4]	USA Hispanic	0.4
^[4]	USA African America	0.2

In Behçet's Disease

Behçet's disease is an inflammation of the wall of blood vessels that can involve the eyes, skin, and the rest of the body.^[8] Several alleles of B51 (B*5101, B*5108, B*5105, and B*5104) are found in disease, and linkage to markers, D6S285, in the HLA locus was strong (P>0.005).^[9] Homozygotes of B51 showed considerably high risk for disease indicating a possible gene-dose effect. B51 is capable of distinguishing several varieties of disease. HLA-B51 is found more frequently in disease that has an eye involvement.^[10] However it is less common in some regions when there is increased neurological involvement.^[11] The MICA*009 allele has been found to also associated with ABD when B51 is also present,^[12] IL-8 and other cytokines may also be involved.^[13]^[14] Sister chromatid exchange has also been observed more frequently in B51(+) ABD.^[15]

However, B51 tends not to be found in ABD when a certain SUMO4 gene variant is involved,^[16] and symptoms appear to be milder when HLA-B27 is present.^[17]

References

^ Marsh SG, Albert ED, Bodmer WF, et al. (2005). "Nomenclature for factors of the HLA system, 2004". Tissue Antigens 65 (4): 301–69. doi:10.1111/j.1399-0039.2005.00379.x. PMID 15787720.
^ Cox ST, McWhinnie AJ, Robinson J, et al. (January 2003). "Cloning and sequencing full-length HLA-B and -C genes" (PDF). Tissue Antigens 61 (1): 20–48. doi:10.1034/j.1399-0039.2003.610103.x. PMID 12622774. http://www.ebi.ac.uk/~sp/intern/projects/pdf_archive/pdfpumped/4/12622774.pdf.
^ derived from IMGT/HLA
^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k ^l ^m ⁿ ^o ^p ^q ^r ^s ^t ^u ^v ^w ^x ^y ^z ^aa ^ab ^ac ^ad ^ae ^af ^ag ^ah ^ai ^aj ^ak ^al ^am ^an ^ao ^ap ^aq ^ar ^as ^at ^au ^av ^aw ^ax ^ay ^az ^ba ^bb ^bc 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.
^ Ohno S, Ohguchi M, Hirose S, Matsuda H, Wakisaka A, Aizawa M (September 1982). "Close association of HLA-Bw51 with Behçet's disease". Arch. Ophthalmol. 100 (9): 1455–8. PMID 6956266.
^ Keren G, Danon YL, Orgad S, Kalt R, Gazit E (August 1982). "HLA Bw51 is increased in mucocutaneous lymph node syndrome in Israeli patients". Tissue Antigens 20 (2): 144–6. doi:10.1111/j.1399-0039.1982.tb00337.x. PMID 6958087.
^ Ishii K, Nakazono N, Sawada H, et al. (1981). "Host factors and susceptibility to rubella virus infection: the association of HLA antigens". J. Med. Virol. 7 (4): 287–97. doi:10.1002/jmv.1890070405. PMID 6950026.
^ Durrani K, Papaliodis GN (2008). "The genetics of Adamantiades-Behcet's disease". Semin Ophthalmol 23 (1): 73–9. doi:10.1080/08820530701745264. PMID 18214795.
^ Karasneh J, Gül A, Ollier WE, Silman AJ, Worthington J (June 2005). "Whole-genome screening for susceptibility genes in multicase families with Behçet's disease". Arthritis Rheum. 52 (6): 1836–42. doi:10.1002/art.21060. PMID 15934084.
^ Krause L, Köhler AK, Altenburg A, Papoutsis N, Zouboulis CC, Pleyer U, Stroux A, Foerster MH (June 2008). "Ocular involvement is associated with HLA-B51 in Adamantiades-Behçet's disease". Eye 23 (5): 1182–6. doi:10.1038/eye.2008.177. PMID 18551141.
^ Houman MH, Neffati H, Braham A, et al. (2007). "Behçet's disease in Tunisia. Demographic, clinical and genetic aspects in 260 patients". Clin. Exp. Rheumatol. 25 (4 Suppl 45): S58–64. PMID 17949553. http://www.clinexprheumatol.org/pubmed/find-pii.asp?pii=17949553.
^ Mizuki N, Meguro A, Tohnai I, Gül A, Ohno S, Mizuki N (2007). "Association of Major Histocompatibility Complex Class I Chain-Related Gene A and HLA-B Alleles with Behçet's Disease in Turkey". Jpn. J. Ophthalmol. 51 (6): 431–6. doi:10.1007/s10384-007-0473-y. PMID 18158593.
^ Lee EB, Kim JY, Zhao J, Park MH, Song YW (February 2007). "Haplotype association of IL-8 gene with Behcet's disease". Tissue Antigens 69 (2): 128–32. doi:10.1111/j.1399-0039.2006.00736.x. PMID 17257314.
^ Pay S, Simşek I, Erdem H, Dinç A (March 2007). "Immunopathogenesis of Behçet's disease with special emphasize on the possible role of antigen presenting cells". Rheumatol. Int. 27 (5): 417–24. doi:10.1007/s00296-006-0281-6. PMID 17171346.
^ Ikbal M, Atasoy M, Pirim I, Aliagaoglu C, Karatay S, Erdem T (February 2006). "The alteration of sister chromatid exchange frequencies in Behçet's disease with and without HLA-B51". J Eur Acad Dermatol Venereol 20 (2): 149–52. doi:10.1111/j.1468-3083.2006.01386.x. PMID 16441621.
^ Hou S, Yang P, Du L, et al. (July 2008). "SUMO4 gene polymorphisms in Chinese Han patients with Behcet's disease". Clin. Immunol. 129 (1): 170. doi:10.1016/j.clim.2008.06.006. PMID 18657476.
^ Ahn JK, Park YG (October 2007). "Human leukocyte antigen B27 and B51 double-positive Behçet uveitis". Arch. Ophthalmol. 125 (10): 1375–80. doi:10.1001/archopht.125.10.1375. PMID 17923546.

UpToDate Contents

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1. ベーチェット症候群の病因 pathogenesis of behcets syndrome

English Journal

Macular hole in Behcet's disease.

Al-Dhibi H, Abouammoh M, Al-Harthi E, Al-Gaeed A, Larsson J, Abboud E, Chaudhry I.SourceUveitis Division, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Indian journal of ophthalmology.Indian J Ophthalmol.2011 Sep-Oct;59(5):359-62.
Objective: To investigate the clinical features, prevalence, role of surgical intervention and the visual prognosis of macular holes (MH) in patients with Behcet's disease (BD). Materials and Methods: Retrospective study of patients with BD and MH from January 1998 to November 2008. Results: Out of
PMID 21836340

Investigation of bacterial and viral agents and immune status in Behcet's disease patients from Iran.

Irschick EU, Philipp S, Shahram F, Schirmer M, Sedigh M, Ziaee N, Gassner C, Schennach H, Meyer M, Larcher C, Herold M, Schoenitzer D, Fuchs D, Schoenbauer M, Maass M, Huemer HP, Davatchi F.SourceDepartment of Ophthalmology, Medical University of Innsbruck, Austria Rheumatology Research Centre, University of Medical Sciences Tehran, Iran Department of Internal Medicine Institute of Transfusion Medicine and Immunology Institute of Microbiology and Social Medicine Institute of Medical Chemistry and Biochemistry and Ludwig Bolzmann Institute of AIDS Research, Medical University of Innsbruck, Innsbruck Austrian Agency for Health and Food Safety (AGES), Vienna Institute of Medical Microbiology, Hygiene and Infectious Diseases, University Hospital Salzburg, Salzburg, Austria.
International journal of rheumatic diseases.Int J Rheum Dis.2011 Aug;14(3):298-310. doi: 10.1111/j.1756-185X.2011.01601.x. Epub 2011 Mar 14.
Aim:? Behcet's disease (BD) is an autoimmune disorder associated with HLA-B51 positivity. Serologic/genomic findings have suggested microbes as possible causative agents and the geographical distribution suggests environmental influences. Methods:? We performed comparative analyses of 40 patien
PMID 21816027

Japanese Journal

Long-term control of HIV-1 in hemophiliacs carrying slow-progressing allele HLA-B*5101

Yuka Kawashima,Nozomi Kuse,Hiroyuki Gatanaga,Takuya Naruto,Mamoru Fujiwara,Sachi Dohki,Tomohiro Akahoshi,Katsumi Maenaka,Philip Goulder,Shinichi Oka,Masafumi Takiguchi,カワシマユカ,クセノゾミ,ガタナガヒロユキ,ナルトタクヤ,フジワラマモル,ドウキサチ,アカホシトモヒロ,マエナカカツミ,オカシンイチ,タキグチマサフミ,川島夕佳,久世望,潟永博之,成戸卓也,藤原守,道木佐知,赤星智寛,前仲勝実,岡慎一,滝口雅文
Journal of Virology 84(14), 7151-7160, 2010-07
… HLA-B*51 alleles are reported to be associated with slow disease progression to AIDS, but the mechanism underlying this association is still unclear. … In the present study, we analyzed the effect of HLA-B*5101 on clinical outcome for Japanese hemophiliacs who had been infected with HIV-1 before 1985 and had been recruited in 1998 for this study. … HLA-B*5101 + hemophiliacs exhibited significantly slow progression. …
NAID 120002754175

結節性紅斑様皮疹部に壊死性血管炎を伴ったベーチェット病の一例

東直人,夏秋優,山西清文,近藤宣幸,岩崎剛,森本麻衣,西岡亜紀,関口昌弘,北野将康,橋本尚明,松井聖,佐野統
日本臨床免疫学会会誌 = Japanese journal of clinical immunology 33(3), 149-153, 2010-06-30
… 受診．睾丸腫脹は難治性副睾丸炎，眼症状は網脈絡膜炎と診断された．下肢紅斑は結節性紅斑（EN）が疑われ，同部位で皮膚生検を施行したところ，壊死性血管炎および隔壁性脂肪織炎を認めた．HLA-B51陽性も併せ，厚生省診断基準（1987年）に基づき不全型ベーチェット病（BD）と確定診断した．prednisolone 10 mg/日による加療で症状は速やかに改善した．本症例では，EN様皮疹部で病理組織学的に壊死 …
NAID 10026543322

Related Pictures

★リンクテーブル★

リンク元	「ベーチェット病」「ヒト白血球抗原」
関連記事	「B」「HL」「H」「HLA」

「ベーチェット病」

　　[★]

英: Behçet disease, Behcet disease, Behcet's disease, BD
同: ベーチェット症候群 Behcet syndrome, (国試)Behcet病
関

概念

難病であり、特定疾患治療研究事業の対象疾患である。
急性の炎症が反復し、増悪と寛解を繰り返す慢性疾患であり、繰り返す口内アフタが特徴的である。その他、性器潰瘍、皮膚病変、眼病変、神経病変、血管病変、消化管病変、関節病変を伴う。全身の血管(動静脈)にそのサイズに関係なく炎症を起こすのが特徴的である(参考2)。

病因

遺伝要因(HLA-B51)と環境要因が発症に関与。

疫学

20歳代に初発。中年男性では多発する。日本人に多い。(NDE.145)

症状

特殊型は予後が悪い。

主症状：4主徴

1. 口腔内アフタ性潰瘍：ほぼ全例に出現。初発症状で最多。口腔粘膜、舌。有痛性。再発性。
2. 陰部潰瘍：70-80%に出現。有痛性の深い潰瘍。男性は陰嚢、女性は大小陰唇。
3. 皮膚症状：下腿に好発する結節性紅斑。毛嚢炎様皮疹。血栓性静脈炎(高頻度らしい(NDE.145))など。　　皮膚症状の出現頻度は90%(QB.F-147)
4. 眼症状：40-50%。男性に多い。網膜ぶどう膜炎、虹彩毛様体炎(前眼房蓄膿)。霧視羞明、眼痛。

副症状

5. 関節症状：関節炎症状(腫脹、疼痛)。大関節に多く、骨の破壊や変形は起きない傾向。
6. 精巣上体炎：10%以下。腫脹と疼痛。

特殊型

7. 消化器症状：回盲部潰瘍。回盲部を中心とした腹痛、下痢、黒色便など。腸Behcet病
難治性のことが多い。
8. 血管炎症状：大血管の動脈瘤や閉塞。脈拍や血圧の左右差。脳、腎などの循環障害症状。無症状の場合もありうる。血管Behcet病
9. 中枢神経症状：髄膜炎症状から、四肢麻痺、痙攣、運動失調、精神症状の出現など。神経Behcet病