rs114800139 - HLA-DRB9

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3. - Nature genetics (2015) · Hou S, Du L, Lei B, Pang CP, Zhang M, Zhuang W, Zhang M, Huang L, Gong B, Wang M, Zhang Q, Hu K, Zhou Q, Qi J, Wang C, Tian Y, Ye Z, Liang L, Yu H, Li H, Zhou Y, Cao Q, Liu Y, Bai L, Liao D, Kijlstra A, Xu J, Yang Z, Yang P · PubMed 25108386

  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 al

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