rs3792876

Two-stage case-control association study in 738 Han Chinese Behcet's disease patients with ocular involvement and 1,873 controls identified three JAK1 SNPs (rs2780815, rs310241, rs3790532) significantly associated with disease susceptibility (Pc=0.030-1.90×10⁻⁴) with population attributable risks of 35.0%, 28.0%, and 27.0% respectively. No significant associations were found for SLC22A4, SLC22A5, or RUNX1 polymorphisms.

This genetic association study of 543 IBD patients (309 CD, 234 UC) and 296 controls found that RUNX3 SNP rs2236851 is associated with ulcerative colitis (OR 1.61, 95% CI 1.11-2.32, P=0.020), with stronger association for pancolitis (OR 1.86). SLC22A4/5 SNPs rs272893 and rs273900 are associated with Crohn's disease (OR 2.16 and 2.40, respectively). An epistatic interaction between RUNX3 and SLC22A4/5 increased UC risk (OR 3.83, P=0.018). RUNX3 mRNA expression is elevated in inflamed colonic mucosa of UC patients.

This case-control study of 316 T1D patients, 599 RA patients, and 540 Spanish controls examined IL4 polymorphisms in the context of the 5q31-33 locus. The IL4 -590C/T polymorphism (rs2243250) showed no individual association with T1D or RA. However, stratified analysis by the OCTN1 L503F variant (rs1050152) revealed a significant association between IL4 and T1D in OCTN1-negative individuals (OR=1.95, 95% CI=1.07-3.55, p=0.02), demonstrating that linkage disequilibrium in this complex region can mask or reveal genetic effects.

This case-control study examined the role of CARD15, TLR4, SLC22A4/5, and DLG5 polymorphisms in 103 pediatric-onset and 696 adult-onset inflammatory bowel disease (IBD) patients compared to 272 healthy controls. CARD15 3020insC homozygosity was significantly more common in pediatric-onset Crohn's disease (CD) versus adult-onset CD (4.2% vs 0.6%, RR 7.1, 95% CI 1.2-42.0, P=0.04). SLC22A4/5 rs3792876 was significantly associated with pediatric-onset CD (6.1% vs 1.1% in adult-onset CD, P=0.02). DLG5 rs2165047 was associated with perianal disease in pediatric CD patients (RR 2.4, 95% CI 1.4-4.0, P=0.003).

This study examined the association of SLC22A4 gene polymorphisms rs3792876 and rs2073838 with bronchodilator response to salbutamol in 180 Egyptian asthmatic patients. The homozygous recessive genotype of rs3792876 was significantly more frequent in non-responders (P = 0.01, OR 1.2-9.5), suggesting this variant may influence drug absorption. The rs2073838 polymorphism showed no significant association with bronchodilator response.