Association of <i>HLA-DQA2</i> and <i>HLA-B</i> With Moyamoya Disease in the Chinese Han Population
Jiang Wan, Wei Ling, Zhang Zhengshan, Xianbo Zuo, Lian Duan, Kai Wang
Abstract
<h3>Objective</h3> An HLA imputation was conducted to explore the relationship between HLA and patients with moyamoya disease (MMD) in the Chinese Han population. <h3>Methods</h3> In this study, we performed an association analysis of the major histocompatibility complex region in 2,786 individuals of Chinese Han ancestry (2,031 controls and 755 patients with MMD), through a widely used HLA imputation method. <h3>Results</h3> We identified that the variant rs3129731 (odds ratio [OR] = 1.79, <i>p</i> = 3.69 × 10<sup>−16</sup>) located between the <i>MTCO3P1</i> and <i>HLA-DQA2</i> is a major genetic risk factor for MMD. In addition to this variant, found in the conditional association analysis, we also detected another independent signal, rs1071817 (OR = 0.62, <i>p</i> = 1.20 × 10<sup>−11</sup>), in HLA-B. <h3>Conclusions</h3> Our research suggests that the genetic polymorphism of <i>HLA-DQA2</i> and <i>HLA-B</i> could be a genetic predisposing factor for MMD in Chinese Han. This may provide some evidence for further HLA-related studies of patients with MMD of Chinese Han ethnicity and indicates that MMD is an immune-related disease.