rs4263839

This retrospective cohort study investigated 119 Japanese Crohn's disease patients to examine whether TL1A (TNFSF15) genotype affects therapeutic outcomes with anti-TNF antibodies (infliximab and adalimumab). The TL1A -358C/C risk allele (rs6478109) was significantly associated with reduced surgery-free survival (HR 4.67, P = 0.025), with patients homozygous for the risk allele showing lower surgical-free survival compared to those carrying protective alleles. No significant differences were found in drug retention or relapse-free survival between genotypes.

This study identified rs4979462 in the TNFSF15 locus as the causal variant for primary biliary cirrhosis (PBC) susceptibility in the Japanese population through integrated analysis including case-control association (n=1279 PBC cases, n=1091 controls; P=1.85×10⁻¹⁴, OR=1.57) and in vitro functional studies. The PBC-susceptible allele generates a novel NF-1 transcription factor binding site, enhancing TNFSF15 expression and increasing susceptibility to autoimmune liver disease.

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.