Fig. 6. A causal variant in human CARINH locus increases IBD risk by impairing the inducible expression of CARINH.

a Summary of IBD-associated variants in the 95% credible set in the chr5: 131.2MB-132.2MB region. Results are taken from reference.¹ Prob, the posterior probability for a variant to be causal to IBD; OR, odds ratio; SE, standard error. b Genetic associations with IBD in the CARINH region. P-values were taken from an association study of IBD.¹ The region is refined as 400 kb up- and downstream of the most significantly associated variant: rs2188962. c The T allele of rs2188962 increases the genetic risk for IBD. The proportion of individuals diagnosed with IBD for each genotype (CC, CT and TT) of rs2188962 from the International Inflammatory Bowel Disease Genetics Consortium data (35,109 IBD patients and 35,761 controls) were calculated to evaluate the relative risk to IBD. The relative risk was calculated as the ratio of the proportions using genotype CC as the baseline genotype. Error bar indicates 95% confidence interval. d qPCR analysis of human CARINH, IRF1 and IL18BP mRNA expression in CRISPR-edited HeLa cell clones with rs2188962 (C/T) variant of each genotype (CC, CT and TT) treated with or without microbe component mimic (Poly I:C). n = 3 per group. NT, no treatment. The data in d are representative of at least 3 independent experiments. Data represent means ± SEM.