Genes in the HLA class II region include the most important inherited risk factors for type 1 diabetes (T1D) although also polymorphisms outside the HLA region modulate the predisposition to T1D. This study set out to confirm a recent observation in which a novel expression quantitative trait locus was formed by three single nucleotide polymorphisms (SNP) in the intron of HLA-DRA1 in DR3-DQ2 haplotypes. The SNPs significantly increased the risk for T1D in DR3-DQ2 homozygous individuals and we intended to further explore this association, in the Finnish population, by comparing two DR3-DQ2 positive genotypes. Cohorts with DR3-DQ2/DR3-DQ2 (N = 570) and DR3-DQ2/DR1-DQ5 (N = 1035) genotypes were studied using TaqMan analysis that typed for rs3135394, rs9268645 and rs3129877. The tri-SNP haplotype was significantly more common in cases than controls in the DR3-DQ2/DR3-DQ2 cohort (OR = 1.70 CI 95% = 1.15–2.51P = 0.007). However, no significant associations could be observed in the DR3-DQ2/DR1-DQ5 cohort.

HLA II 类区域中的基因包括 1 型糖尿病 (T1D) 最重要的遗传风险因素，尽管 HLA 区域外的多态性也调节 T1D 的易感性。本研究旨在证实最近的观察结果，其中新的表达数量性状基因座由 DR3-DQ2 单倍型中 HLA-DRA1 的内含子中的三个单核苷酸多态性 (SNP) 形成。SNP 显着增加了 DR3-DQ2 纯合个体中 T1D 的风险，我们打算通过比较两种 DR3-DQ2 阳性基因型，在芬兰人群中进一步探索这种关联。使用 rs3135394、rs9268645 和 rs3129877 分型的 TaqMan 分析研究了具有 DR3-DQ2/DR3-DQ2 (N = 570) 和 DR3-DQ2/DR1-DQ5 (N = 1035) 基因型的群组。在 DR3-DQ2/DR3-DQ2 队列中，tri-SNP 单倍型在病例中明显比对照组更常见（OR = 1.70 CI 95% = 1.15–2.51P = 0.007）。然而，在 DR3-DQ2/DR1-DQ5 队列中没有观察到显着的关联。