Expressive

rs117633859 - IL23R, C1orf141

Magnitude 4.5 · 2 studies on file

Reported associations

  • Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis. - Communications biology (2021) · Meguro A, Ishihara M, Petrek M, Yamamoto K, Takeuchi M, Mrazek F, Kolek V, Benicka A, Yamane T, Shibuya E, Yoshino A, Isomoto A, Ota M, Yatsu K, Shijubo N, Nagai S, Yamaguchi E, Yamaguchi T, Namba K, Kaburaki T, Takase H, Morimoto SI, Hori J, Kono K, Goto H, Suda T, Ikushima S, Ando Y, Takenaka S, Takeuchi M, Yuasa T, Sugisaki K, Ohguro N, Hiraoka M, Kitaichi N, Sugiyama Y, Horita N, Asukata Y, Kawagoe T, Kimura I, Ishido M, Inoko H, Mochizuki M, Ohno S, Bahram S, Remmers EF, Kastner DL, Mizuki N · PubMed 32826979

    Sarcoidosis is a genetically complex systemic inflammatory disease that affects multiple organs. We present a GWAS of a Japanese cohort (700 sarcoidosis cases and 886 controls) with replication in independent samples from Japan (931 cases and 1,042 controls) and the Czech Republic (265 cases and 264 controls). We identified three loci outside the HLA complex, CCL24, STYXL1-SRRM3, and C1orf141-IL23R, which showed genome-wide significant associations (P < 5.0 × 10 ) with sarcoidosis; CCL24 and STYXL1-SRRM3 were novel. The disease-risk alleles in CCL24 and IL23R were associated with reduced CCL24 and IL23R expression, respectively. The disease-risk allele in STYXL1-SRRM3 was associated with elevated POR expression. These results suggest that genetic control of CCL24, POR, and IL23R e

  • 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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