rs2305480

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.

This candidate gene association study examined genetic variants in atopic disease and proinflammatory cytokine genes for association with type 1 diabetes in 6,743-10,320 cases and 7,864-9,354 controls. The FLG R501X/rs61816761 (p=0.82), SELS -105/rs28665122 (p=0.08), and IL18 SNPs showed no association with T1D. However, four loci previously associated with asthma also showed significant association with T1D: HLA, GSDMB/ORMDL3/GSDMA (rs2305480, rs3894194, p≤1.2×10⁻⁶), and IL2RB (rs2284033, p=0.005), suggesting shared genetic susceptibility between atopic and autoimmune diseases.

Genome-wide association study identifying 46 SNPs associated with medically refractory ulcerative colitis (MR-UC) that together explain 48% of the variance in colectomy risk. A genetic risk score based on these SNPs achieved an AUC of 0.91 in predicting colectomy need, with risk categories showing 0-100% colectomy rates. Genome-wide significant associations were confirmed at the MHC region (rs17207986, p=1.4×10^-16) and suggestive association at TNFSF15/TL1A (rs11554257, p=1.4×10^-6).