Major histocompatibility complex class I chain related gene-A microsatellite polymorphism shows secondary association with type 1 diabetes and celiac disease in North Indians.
N Kumar, G Sharma, G Kaur, N Tandon, S Bhatnagar, N Mehra
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引用次数: 22
Abstract
Microsatellite polymorphism in exon 5 of major histocompatibility complex class I chain related gene-A (MIC-A) has been implicated in the etiology of autoimmune diseases including type 1 diabetes (T1D) and celiac disease (CD). In this study on North Indian population, the MIC-A5.1 allele, carrying a premature termination codon in transmembrane region, was observed with increased frequency in T1D (29.6%, odds ratio OR = 2.1, P = 0.00017) and CD patients (40.3%, OR = 3.37, P = 1.67E-05) than in controls (16.7%). When the MIC-A5.1 association was adjusted for linkage with human leukocyte antigen (HLA)-DR3, the statistical significance of the association was abolished. This implies that the observed association of MIC-A5.1 is due to its linkage disequilibrium (D' = 0.94) with HLA-B8-DR3-DQ2 haplotype and is secondary to the overall association with DR3 positive MHC haplotypes.
主要组织相容性复合体I类链相关基因- a (MIC-A)外显子5的微卫星多态性与包括1型糖尿病(T1D)和乳糜泻(CD)在内的自身免疫性疾病的病因有关。本研究在北印度人群中发现，MIC-A5.1等位基因在T1D患者(29.6%，比值比OR = 2.1, P = 0.00017)和CD患者(40.3%，OR = 3.37, P = 1.67E-05)中的频率高于对照组(16.7%)。MIC-A5.1等位基因在跨膜区携带过早终止密码子。当MIC-A5.1相关性调整为与人类白细胞抗原(HLA)-DR3的连锁时，该相关性的统计学意义被取消。这表明MIC-A5.1的关联是由于其与HLA-B8-DR3-DQ2单倍型的连锁不平衡(D′= 0.94)，其次是与DR3阳性MHC单倍型的整体关联。
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