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HLA-DRB1*0405是巴西Vogt-小柳原田病患者中的主要等位基因。

HLA-DRB1*0405 is the predominant allele in Brazilian patients with Vogt-Koyanagi-Harada disease.

作者信息

Goldberg A C, Yamamoto J H, Chiarella J M, Marin M L, Sibinelli M, Neufeld R, Hirata C E, Olivalves E, Kalil J

机构信息

Laboratory of Transplant Immunology, University of São Paulo, Brasil.

出版信息

Hum Immunol. 1998 Mar;59(3):183-8. doi: 10.1016/s0198-8859(97)00265-6.

DOI:10.1016/s0198-8859(97)00265-6
PMID:9548078
Abstract

Vogt-Koyanagi-Harada (VKH) disease is a rare disorder affecting pigmented structures especially the eye and is the main cause of autoimmune non-infectious uveitis in the Brazilian population. The autoimmune target is believed to be the melanocyte. A strong association of VKH disease with HLA-DR4 in the Japanese population is well known. The same association, albeit with lower relative risks has been found in other populations. A secondary association to HLA-DR1 involving a sequence linked with susceptibility to Rheumatoid Arthritis has also been described. VKH disease is more common in non-Caucasian populations. Brazilian patients of varying ethnic origins have been typed for HLA class II antigens. Several of the features found in other population samples are present. Over half of the patients typed HLA-DR4 (20/37) and typing with sequence-specific oligonucleotides disclosed predominance of the DRB10405 allele with a relative risk of 11.76 over the general population. In addition, HLA-DR1 and DQ4 were also present, in patients both positive and negative for HLA-DR4. These results suggest that, as in other autoimmune diseases, multiple overlapping susceptibility factors encoded by the MHC complex contribute to the overall susceptibility for the disease, the major factor however, being the presence of the DRB10405 allele.

摘要

伏格特-小柳-原田(VKH)病是一种罕见的疾病,主要影响色素结构,尤其是眼睛,是巴西人群自身免疫性非感染性葡萄膜炎的主要病因。据信自身免疫的靶点是黑素细胞。在日本人群中,VKH病与HLA-DR4有很强的关联,这是众所周知的。在其他人群中也发现了同样的关联,尽管相对风险较低。还描述了与HLA-DR1的次要关联,其中涉及一个与类风湿关节炎易感性相关的序列。VKH病在非白种人群中更为常见。对不同种族来源的巴西患者进行了HLA II类抗原分型。在其他人群样本中发现的几个特征都存在。超过一半的患者HLA-DR4分型为阳性(20/37),采用序列特异性寡核苷酸分型显示DRB10405等位基因占优势,相对于普通人群的相对风险为11.76。此外,在HLA-DR4阳性和阴性的患者中也都存在HLA-DR1和DQ4。这些结果表明,与其他自身免疫性疾病一样,MHC复合体编码的多个重叠易感因素导致了对该疾病的总体易感性,然而,主要因素是DRB10405等位基因的存在。

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HLA-DRB1*0405 is the predominant allele in Brazilian patients with Vogt-Koyanagi-Harada disease.HLA-DRB1*0405是巴西Vogt-小柳原田病患者中的主要等位基因。
Hum Immunol. 1998 Mar;59(3):183-8. doi: 10.1016/s0198-8859(97)00265-6.
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[The association of HLA-DR4 gene subtypes with Vogt-Koyanagi-Harada syndrome].[HLA-DR4基因亚型与Vogt-小柳-原田综合征的关联]
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HLA-DRB1 typing of Vogt-Koyanagi-Harada's disease by PCR-RFLP and the strong association with DRB1*0405 and DRB1*0410.通过聚合酶链反应-限制性片段长度多态性技术对小柳原田病进行HLA-DRB1分型及与DRB1*0405和DRB1*0410的强关联
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[Association of HLA-DRB genes with Vogt-Koyanagi-Harada syndrome in a Chinese Han population].[中国汉族人群中HLA - DRB基因与Vogt - 小柳 - 原田综合征的关联]
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Medicine (Baltimore). 2018 Feb;97(7):e9914. doi: 10.1097/MD.0000000000009914.
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Vogt-Koyanagi-Harada disease: review of a rare autoimmune disease targeting antigens of melanocytes.伏格特-小柳-原田病:一种罕见的针对黑素细胞抗原的自身免疫性疾病的综述
Orphanet J Rare Dis. 2016 Mar 24;11:29. doi: 10.1186/s13023-016-0412-4.
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J Ophthalmic Inflamm Infect. 2014 Jul 22;4:20. doi: 10.1186/s12348-014-0020-1. eCollection 2014.
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