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首页> 外文期刊>Annals of the New York Academy of Sciences >Genomic evaluation of HLA-DR3+ haplotypes associated with type 1 diabetes
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Genomic evaluation of HLA-DR3+ haplotypes associated with type 1 diabetes

机译：与1型糖尿病相关的HLA-DR3 +单倍型的基因组评估

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摘要

We have defined three sets of HLA-DR3~+ haplotypes that provide maximum risk of type 1 disease development in Indians: (1) a diverse array of B8-DR3 haplotypes, (2) A33-B58-DR3 haplotype, and (3) A2-B50-DR3 occurring most predominantly in this population. Further analysis has revealed extensive diversity in B8-DR3 haplotypes, particularly at the HLA-A locus, in contrast to the single fixed HLA-A1-B8-DR3 haplotype (generally referred to as AH8.1) reported in Caucasians. However, the classical AH8.1 haplotype was rare and differed from the Caucasian counterpart at multiple loci. In our study, HLA-A26-B8-DR3 (AH8.2) was the most common B8-DR3 haplotype constituting >50% of the total B8-DR3 haplotypes. Further, A2-B8-DR3 contributed the maximum risk (RR = 48.7) of type 1 diabetes, followed by A2-B50-DR3 (RR = 9.4), A33-B58-DR3 (RR = 6.6), A24-B8-DR3 (RR = 4.5), and A26-B8-DR3 (RR = 4.2). Despite several differences, the disease-associated haplotypes in Indian and Caucasian populations share a frozen DR3-DQ2 block, suggesting a common ancestor from which multiple haplotypes evolved independently.
机译：我们定义了三组HLA-DR3〜+单倍型，它们在印度人中提供最大的1型疾病发展风险：（1）各种各样的B8-DR3单倍型，（2）A33-B58-DR3单倍型，和（3） A2-B50-DR3最常见于此人群。进一步的分析表明，与白种人报告的单一固定HLA-A1-B8-DR3单倍型（通常称为AH8.1）相比，B8-DR3单倍型具有广泛的多样性，尤其是在HLA-A位点。但是，经典的AH8.1单倍型很少见，并且在多个基因座上与高加索人不同。在我们的研究中，HLA-A26-B8-DR3（AH8.2）是最常见的B8-DR3单倍型，占总B8-DR3单倍型的> 50％。此外，A2-B8-DR3导致1型糖尿病的最大风险（RR = 48.7），其次是A2-B50-DR3（RR = 9.4），A33-B58-DR3（RR = 6.6），A24-B8-DR3 （RR = 4.5）和A26-B8-DR3（RR = 4.2）。尽管存在一些差异，但印度和高加索人群中与疾病相关的单倍型共享一个冻结的DR3-DQ2区块，这表明多个单倍型从其共同进化的共同祖先。

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  • 来源
    《Annals of the New York Academy of Sciences》 |2013年第2013期|91-96|共6页
  • 作者

    Neeraj Kumar; Gurvinder Kaur; Nikhil Tandon; Uma Kanga; Narinder Mehra;

  • 作者单位

    Department of Transplant Immunology and Immunogenetics;

    Department of Transplant Immunology and Immunogenetics;

    Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India;

    Department of Transplant Immunology and Immunogenetics;

    Department of Transplant Immunology and Immunogenetics Department of Transplant Immunology and Immunogenetics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi-110029, India;

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  • 正文语种 eng
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  • 关键词

    HLA; haplotype; type 1 diabetes;

    机译：HLA;单倍型1型糖尿病;

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