rs1884444

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.

A case-control study of 521 Chinese SLE patients and 527 controls found no significant association between two IL-23R gene polymorphisms (rs10889677 and rs1884444) and systemic lupus erythematosus susceptibility or lupus nephritis. Chi-square and logistic regression analysis showed no significant differences in allele or genotype frequencies between patients and controls (rs10889677: p=0.085 for allele frequency; rs1884444: p=0.515 for allele frequency), and haplotype analysis was also non-significant.

This case-control association study examined IL-23R gene polymorphisms in 75 Chinese Han ITP patients and 81 controls. IL-23R rs1884444 GT/TT variant genotypes showed significant association with increased ITP risk (OR 2.776, 95% CI 1.086-7.090, p=0.028), while three other SNPs (rs10889677, rs11209032, rs7517847) showed no significant associations. IL-23R polymorphisms were not associated with response to high-dose dexamethasone therapy.

A prospective study of 568 Chinese non-small-cell lung cancer (NSCLC) patients found that four immune gene polymorphisms were independently associated with survival: IL-5R rs11713419 (5'-UTR, P=0.001), IL23R rs6682925 (5'-FR, P=0.017), TLR1 rs5743551 (5'-FR, P=0.02), and TLR3 rs3775291 (Leu412Phe, P=0.01). Patients carrying 1 unfavorable locus had 124% increased mortality risk (HR=2.24, 95% CI: 1.33-3.75), and those with 2-4 unfavorable loci had 175% increased risk (HR=2.75, 95% CI: 1.67-4.51). Combined SNP and clinical risk score model achieved 5-year AUC of 0.831 versus 0.484 for clinical factors alone.

A case-control study of 1,645 esophageal cancer cases and 1,694 controls in a Chinese population found that IL-23R rs6682925 T>C (adjusted OR=1.23, 95% CI 1.07-1.42) and rs1884444 T>G (adjusted OR=1.16, 95% CI 1.01-1.33) variant genotypes were significantly associated with increased esophageal cancer risk. The associations were independent of smoking and alcohol drinking status.

A haplotype association study in 763 Crohn's disease patients and 254 controls showed that IL23R haplotypes account for substantially greater population attributable risk (~10-22%) compared to the single IL23R R381Q variant (~4%). Risk haplotypes in blocks 2 and 3 showed odds ratios of 1.43 and 1.43 respectively, while protective haplotypes showed odds ratios of 0.65 and 0.65, demonstrating IL23R's large contribution to CD susceptibility.