rs3748816

This meta-analysis of 22,233 CAD cases and 64,762 controls tested 41 celiac disease-associated SNPs for association with coronary artery disease (CAD). While 58.5% of celiac disease risk alleles showed positive association with CAD (OR 1.001-1.081), this was not significantly different from the 50% expected by chance (p=0.069). Only rs653178 at the SH2B3/ATXN2 locus achieved study-wide statistical significance (OR 1.081, p=2.2×10⁻⁶), likely through pleiotropic effects. The findings provide no convincing evidence that genetic variants associated with celiac disease contribute to CAD risk.

This dense genotyping study identified 12 genome-wide significant susceptibility loci for primary sclerosing cholangitis (PSC) outside the HLA complex in 3,789 European PSC cases and 25,079 controls using the Immunochip array. Nine loci were novel, including rs7426056 (CD28; OR=1.30), rs3197999 (MST1; OR=1.33), rs13140464 (IL2/IL21; OR=1.30), rs56258221 (BACH2; OR=1.23), and rs2836883 (PSMG1; OR=1.28). The study found overlapping yet distinct genetic architecture between PSC and inflammatory bowel disease, with PSC being genetically more similar to ulcerative colitis than Crohn's disease.

This meta-analysis of 7 genome-wide association studies identified three novel multiple sclerosis susceptibility loci: rs170934 near EOMES (3p24.1, OR=1.17, P=1.6×10⁻⁸), rs2150702 in MLANA (9p24.1, OR=1.16, P=3.3×10⁻⁸), and rs6718520 near THADA (2p21, OR=1.17, P=3.4×10⁻⁸). The analysis encompassed 5,545 cases and 12,153 controls and identified 10 additional loci with suggestive evidence of association (P<1×10⁻⁶), including IL12B, TAGAP, PLEK, and ZMIZ1, which are shared with other inflammatory diseases.