rs11465804

Case-control study of 673 preterm birth (PTB) cases vs 1,119 controls across four maternal cohorts testing 35 SNPs in cardiovascular, inflammatory, and metabolic disease genes. Found 13 statistically significant associations with PTB (P<0.05), more than expected by chance (binomial P=0.02). Most significant was HLA-DQA1 rs9272346 G allele protective effect in US White mothers (P=0.02, OR=0.65, 95% CI 0.46-0.94), which nominally replicated in Danish cohort (P=0.02, OR=0.85, 95% CI 0.75-0.97) but lost significance after correction for multiple testing.

A meta-analysis of 10 studies (14 separate comparisons) examining IL-23R polymorphisms and ankylosing spondylitis (AS) susceptibility. The study found significant associations between rs11209032 (OR=1.182, 95% CI 1.120-1.249) and AS in the overall population, with stronger association in Europeans (OR=1.234) but not in Asians (OR=1.030). Similar patterns were observed for rs1004819, rs10489629, rs1343151, and rs1495965. rs11209026 and rs11465804 also showed significant protective effects in Europeans (OR=0.611 and OR=0.677, respectively).

This study examined 40 SNPs (34 CD-associated and 6 UC-associated) in 2374 Canadian IBD patients (1144 CD, 1230 UC/IBDU) and 1057 healthy controls. While most immune-related variants showed similar frequencies between CD and UC, the two diseases diverged significantly in genes related to innate immunity and autophagy (NOD2, ATG16L1, IRGM), which were more prevalent in CD. In patients with colon-only CD, genetic overlap with UC was nearly complete, suggesting a shared genetic basis for colonic disease.

This case-control association study of juvenile idiopathic arthritis (JIA) in 809 JIA cases and 3,521 controls identified susceptibility loci shared with other autoimmune diseases. Three novel loci were identified: PTPN2 (strongest signals rs7234029, p=7.19×10⁻¹¹, OR=1.59; rs1893217, p=3.48×10⁻⁸, OR=1.52; rs2542151, p=3.05×10⁻⁷, OR=1.45), COG6 (rs7993214, p=3.98×10⁻³, OR=0.79), and ANGPT1 (rs1010824, p=4.93×10⁻³, OR=0.77). Four previously reported JIA loci were confirmed: PTPN22, STAT4, C12orf30, and IL2-IL21. Odds ratios ranged from 1.20 to 1.65 in meta-analysis of initial and independent replication cohorts (n=1,015 cases and 1,568 controls).

This case-control association study examined seven IL23R gene polymorphisms in 1,204 Korean RA patients and 979 controls using TaqMan genotyping. No statistically significant associations were found between IL23R variants (rs1004819, rs7517847, rs10489629, rs2201841, rs1343151, rs11209032, rs1495965) and rheumatoid arthritis susceptibility after multiple testing correction, suggesting IL23R does not play a significant role in RA genetics in the Korean population.

This case-control study examined seven IL23R polymorphisms (rs1004819, rs7517847, rs10489629, rs2201841, rs1343151, rs11209032, rs1495965) in 602 Korean SLE patients and 991 healthy controls using TaqMan genotyping. None of the IL23R genetic variants differed significantly between SLE patients and controls in any genetic model (all p > 0.08), suggesting that IL23R polymorphisms play no role in SLE susceptibility in the Korean population, despite previous associations with inflammatory bowel disease in European populations.

This methodological study develops ProxyGeneLD software for converting genome-wide SNP association data to pathway-enriched gene sets and validates it on multiple large GWAS datasets. The authors demonstrate successful replication of pathway enrichment for plasma HDL levels (with CETP and ABCA1 in lipid metabolism pathways) across independent samples and identify positional gene clustering as a major source of spurious enrichment in pathway analyses of GWAS data.

A candidate gene study of 837 psoriasis cases and 816 controls identified protective variants in IL-23 signaling genes. IL23R p.Arg381Gln (rs11209026) showed reduced frequency in cases vs controls (P=0.00014, OR=0.49). IL12B variants rs10045431 (P=0.0001, OR=1.41) and rs3212227 (P=0.036, OR=0.76) showed independent associations, establishing IL23 receptor signaling as a major pathway in psoriasis susceptibility.

This replication study confirms IL23R as a susceptibility gene for Crohn's disease (CD) and ulcerative colitis (UC) in 604 CD and 647 UC UK patients with 1,149 controls. The nonsynonymous SNP rs11209026 (Arg381Gln) showed protective association with CD (P=6.65×10⁻⁶, OR=0.43), while rs7517847 was the strongest signal (P=4.9×10⁻⁹, OR=0.65). Three independent variants (rs7517847, rs11209026, rs1343151) contribute to CD susceptibility, with suggestive epistasis with the IBD5 haplotype but weaker effects in UC.