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也门犹太人中胰岛素依赖型糖尿病的HLA-II类免疫遗传学

HLA class II immunogenetics of IDDM in Yemenite Jews.

作者信息

Israel S, Kwon O J, Weintrob N, Sprecher E, Bloch K, Assa S, Brautbar C, Vardi P

机构信息

Tissue Typing Unit, Hadassah Medical Organization, Jerusalem, Israel.

出版信息

Hum Immunol. 1998 Nov;59(11):728-33. doi: 10.1016/s0198-8859(98)00074-3.

DOI:10.1016/s0198-8859(98)00074-3
PMID:9796741
Abstract

The association between HLA-DR and DQ and insulin dependent diabetes mellitus (IDDM) was analyzed in 47 patients and 76 controls of Yemenite Jewish origin. The IDDM susceptibility alleles DRB103011, DQA10501, DQB102 and DRB10402, DQA10301, DQB10302 found in Caucasians had a very strong predisposing effect also in the Yemenite IDDM group. The DRB107, DQA10201 and DQB102 alleles were found to have a strong negative association with IDDM. None of the patients carried DRB107 and DQA10201 compared with healthy controls (43.7%). Our analysis revealed that the DRB103011 DQA10501 DQB102/DRB104 DQA103 DQB10302 heterozygous genotype confers the highest susceptibility (59.6% in patients vs. 0% in controls). The homozygous DRB103 and DRB104 genotypes were also found to be positively associated with the disease. 81% of the patients compared to 1.3% of controls carried the susceptibility alleles on both haplotypes. In conclusion, the development of IDDM in Yemenite Jews is strongly dependent on the presence of the susceptibility HLA alleles and on the absence of the DRB107 haplotype. The Yemenite Jewish group is uniquely homogenous with regard to genetic susceptibility factors involved in the process of IDDM, and may thus be an ideal model for further genetic studies.

摘要

对47例患有胰岛素依赖型糖尿病(IDDM)的也门裔犹太患者及76例对照者进行了HLA-DR和DQ与IDDM之间关联的分析。在高加索人中发现的IDDM易感等位基因DRB103011、DQA10501、DQB102以及DRB10402、DQA10301、DQB10302在也门裔IDDM组中也具有很强的致病作用。发现DRB107、DQA10201和DQB102等位基因与IDDM呈强负相关。与健康对照者(43.7%)相比,没有患者携带DRB107和DQA10201。我们的分析显示,DRB103011 DQA10501 DQB102/DRB104 DQA103 DQB10302杂合基因型具有最高的易感性(患者中为59.6%,对照者中为0%)。还发现DRB103和DRB104纯合基因型与该疾病呈正相关。81%的患者与1.3%的对照者在两个单倍型上都携带易感等位基因。总之,也门裔犹太人中IDDM的发生强烈依赖于易感HLA等位基因的存在以及DRB107单倍型的缺失。在参与IDDM发病过程的遗传易感性因素方面,也门裔犹太人群体具有独特的同质性,因此可能是进一步进行遗传学研究的理想模型。

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