rs272893

This case-control study in 469 Czech Crohn's disease (CD) patients and 470 controls examined the IBD5 locus, identifying two independent genetic factors: rs6596075 (OR=0.70, protective allele G, p=0.018 in dominant model) and the haplotype tagged by rs2188962 and IGR2063b_1 (OR=1.38 for IGR2063b_1, p=0.00075 in log-additive model). The study demonstrates that these two genetic factors independently contribute to CD susceptibility at the IBD5 locus.

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 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).