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TL;DR
This retrospective case-control study used IBD GWAS discovery and replicate cohorts from multiple institutions.
Clinical and Translational Gastroenterology · 13 authors, 7 centres
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This retrospective case-control study used IBD GWAS discovery and replicate cohorts from multiple institutions.
This retrospective case-control study used IBD GWAS discovery and replicate cohorts from multiple institutions. Quality control included minor allele frequency, call rates, Hardy-Weinberg equilibrium, cryptic relatedness, and population stratification via principal components. Multivariate analysis showed that patients with UC-PSC had more extensive disease (OR, 5.42; P = 1.57E-04), younger diagnosis age younger than 20 years (OR, 2.22; P = 0.02), and less smoking (OR, 0.42; P = 0.02) than those with UC alone. After linkage disequilibrium pruning and multivariate analyses, three SNPs at the HLA region (rs3131621 at 6p21.33; rs9275596 and rs11244 at 6p21.32) were associated with a 2- to 3-fold increased risk of PSC. Limitations include retrospective design, small number of UC-PSC patients, unavailable exact PSC diagnosis dates, and inclusion of only White patients, limiting generalizability.