rs11805303

This case-control association study examines IL23R gene variants in three autoimmune diseases. The authors genotyped 6 IL23R SNPs in 263 psoriasis, 199 Crohn's disease, 282 ulcerative colitis (UC) patients, and 253 controls. rs1884444 TT conferred risk for UC (OR=3.13, p=0.001) and psoriasis (OR=2.68, p=0.005), while rs7517847 GG was protective for CD (OR=0.48, p=0.017). Haplotype analysis revealed 8 distinct haplotypes; haplotype 5 was significantly elevated in UC (OR=2.50, p=0.003), while haplotypes 6 and 8 conferred risk for CD. The study demonstrates that haplotype analysis reveals disease-specific genetic effects not detected by single SNP analysis.

This study investigated sex-specific genetic associations in Crohn's disease by analyzing 71 genome-wide association study (GWAS)-confirmed CD risk loci in 1748 CD cases and 2938 controls. The authors identified that rs3792106 in ATG16L1 exhibits significant sex-specific associations, with females showing stronger disease association (OR=1.48-1.51) compared to males (OR=1.22-1.26). Transmission distortion analysis in HapMap 3 trios suggests sex-biased inheritance patterns contribute to allele frequency differences between healthy males and females at this locus.

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 case-control study in a Chinese Han population evaluated eight IBD susceptibility loci previously identified in European GWAS. The study found that NOD2 P268S contributed to Crohn's disease susceptibility (P=0.025), IL23R rs11805303 conferred protective effect against ulcerative colitis (P=0.010), and PTPN2 rs2542151 was associated with increased UC risk (P=0.001). Phenotype-genotype analysis showed P268S was associated with early-onset disease and ileal involvement in CD patients.

This haplotype-based case-control study in 245 Han Chinese ulcerative colitis (UC) patients and 300 controls examined six known UC susceptibility loci. The authors identified IL2 SNP rs2069762 (P=7.0×10⁻⁴, OR=1.54, 95% CI 1.20-1.99) and IL21 SNP rs2055979 (P=1.2×10⁻⁴, OR=1.50, 95% CI 1.17-1.92) as independently associated with UC, demonstrating that unlike in Caucasians, IL2 and IL21 occupy separate linkage disequilibrium blocks in Han Chinese populations. They also identified rs17375018 in IL23R associated with disease extent (pancolitis; P=0.002, OR=2.38, 95% CI 1.41-4.02).

This case-control study investigated the association between IL23R gene variants and systemic lupus erythematosus (SLE) in 383 Hungarian SLE patients and 253 healthy controls. Nine IL23R SNPs (rs11805303, rs10889677, rs1004819, rs2201841, rs11209032, rs11209026, rs10489629, rs7517847, rs7530511) were genotyped using PCR-RFLP methods. The study found no significant differences in genotype distributions, allele frequencies, or haplotypes between SLE patients and controls, suggesting that IL23R polymorphisms do not play a role in SLE susceptibility in the Hungarian population.