rs10758669

JAK2 variant rs10758669 significantly increases susceptibility to Crohn's disease (p=0.026, OR=1.25) and is associated with increased intestinal permeability (p=0.004, OR=2.996), suggesting a barrier dysfunction mechanism in IBD pathogenesis. STAT3 rs744166 also increased CD risk (p=0.04, OR=0.83), while IRGM variants showed no association with disease. The findings highlight JAK2's role in epithelial barrier function independent of NOD2 genotype.

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 case-control study of 563 Canadian children with pediatric-onset Crohn's disease and 553 controls confirmed associations between SNPs at two novel pediatric-specific loci (rs1250550 at 10q22.3, p=0.026; rs8049439 at 16p11.2, p=0.04) and disease susceptibility. Additionally, 6 of 16 previously reported adult CD loci were significantly associated with pediatric CD, demonstrating substantial genetic overlap between disease forms.

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.