Nature genetics · 2014
Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Hou Shengping, Du Liping, Lei Bo, Pang Chi Pui, Zhang Meifen, Zhuang Wenjuan, Zhang Minglian, Huang Lulin, Gong Bo, Wang Meilin, Zhang Qi, Hu Ke, Zhou Qingyun, Qi Jian, Wang Chaokui, Tian Yuan, Ye Zi, Liang Liang, Yu Hongsong, Li Hong, Zhou Yan, Cao Qingfeng, Liu Yunjia, Bai Lin, Liao Dan, Kijlstra Aize, Xu Jianfeng, Yang Zhenglin, Yang Peizeng
Аннотация
To identify new genetic risk factors for Vogt-Koyanagi-Harada (VKH) syndrome, we conducted a genome-wide association study of 2,208,258 SNPs in 774 cases and 2,009 controls with follow-up in a collection of 415 cases and 2,006 controls and a further collection of 349 cases and 1,588 controls from a Han Chinese population. We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). The five non-HLA genes were all expressed in human iris tissue. IL23R was also expressed in the ciliary body, and EGR2 was expressed in the ciliary body and choroid. The risk G allele of rs117633859 in the promoter region of IL23R exhibited low transcriptional activation in a cell-based reporter assay and was associated with diminished IL23R mRNA expression in human peripheral blood mononuclear cells.