Simmonds M J, Heward J M, Barrett J C, Franklyn J A, Gough S C L
Department of Medicine, Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, UK.
Clin Endocrinol (Oxf). 2006 Oct;65(4):429-32. doi: 10.1111/j.1365-2265.2006.02586.x.
The HLA region encodes numerous immune response genes, with the DR/DQ molecules consistently associated with autoimmune disease (AID). Recent studies in sarcoidosis have identified association of a single nucleotide polymorphism (SNP) rs2076530 within BTNL2, a potential T-cell inhibitor, independent of the known DRB1 association. The aim of this study was to investigate the association rs2076530 with disease in a large UK Caucasian Graves' disease (GD) dataset.
A case control association study of the rs2076530 polymorphism.
Eight hundred sixty-four Graves' disease patients and 864 controls.
Tests for association with disease.
We detected association of rs2076530 within a large GD dataset [OR = 1.32 (95% CI = 1.14-1.52)], however, linkage disequilibrium (LD) analysis revealed association of rs2076530 to be secondary to the previously established DRB1 exon 2 encoded position beta74 effect although a rare haplotype effect, including both loci, cannot be excluded.
BTNL2 may be a sarcoidosis-specific susceptibility loci, although only extensive examination of the whole HLA region in different inflammatory/AIDs will enable DR/DQ independent HLA effects to be determined.
HLA区域编码众多免疫反应基因，其中DR/DQ分子一直与自身免疫性疾病（AID）相关。近期关于结节病的研究发现，潜在的T细胞抑制剂BTNL2内的单核苷酸多态性（SNP）rs2076530存在关联，且独立于已知的DRB1关联。本研究旨在调查在一个大型英国白种人 Graves病（GD）数据集中rs2076530与疾病的关联。
rs2076530多态性的病例对照关联研究。
864例Graves病患者和864例对照。
与疾病的关联测试。
我们在一个大型GD数据集中检测到rs2076530的关联[比值比（OR）= 1.32（95%可信区间（CI）= 1.14 - 1.52）]，然而，连锁不平衡（LD）分析显示，rs2076530的关联是先前确定的DRB1外显子2编码位置β74效应的继发关联，尽管不能排除包括这两个位点的罕见单倍型效应。
BTNL2可能是结节病特异性的易感基因座，尽管只有对不同炎症/自身免疫性疾病中的整个HLA区域进行广泛检查，才能确定独立于DR/DQ的HLA效应。
