Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3

Shengping Hou, Liping Du, Bo Lei, Chi Pui Pang, Meifen Zhang, Wenjuan Zhuang, Minglian Zhang, Lulin Huang, Bo Gong, Meilin Wang, Qi Zhang, Ke Hu, Qingyun Zhou, Jian Qi, Chaokui Wang, Yuan Tian, Zi Ye, Liang Liang, Hongsong Yu, Hong LiYan Zhou, Qingfeng Cao, Yunjia Liu, Lin Bai, Dan Liao, Aize Kijlstra, Jianfeng Xu, Zhenglin Yang, Peizeng Yang*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.
Original languageEnglish
Pages (from-to)1007-1011
JournalNature Genetics
Issue number9
Publication statusPublished - Sept 2014

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