rs2395185

This case-control study of 503 classical Hodgkin lymphoma (cHL) patients and 347 controls identified distinct HLA associations stratified by EBV status. For EBV-positive cHL, HLA-A*01:01 (OR=2.49) and HLA-B*37:01 (OR=2.58) were associated with increased risk, while HLA-DRB1*15:01 and HLA-DPB1*01:01 were protective. For EBV-negative cHL, the SNP rs6903608 C variant (OR=3.61, p=4.5×10⁻⁷) was the strongest predictor, independent of HLA alleles, suggesting distinct disease mechanisms between EBV-positive and EBV-negative subtypes.

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.

This GWAS of pediatric IBD patients (n=94) tested associations of known IBD susceptibility loci and novel pharmacogenetic variants with response to anti-TNF α therapy. Non-response occurred in 22 patients (23%). The final predictive model combined UC diagnosis, pANCA positivity, three pharmacogenetic GWAS loci (rs975664 in TACR1 [OR 26.5], rs4855535 in FAM19A4 [OR 10.8], rs6100556 in PHACTR3 [OR 13.8]), and the known susceptibility SNP rs2836878 in BRWD1 (OR 8.0), achieving R²=0.82 and AUC=0.98. The relative risk of non-response increased 15-fold when patients carried ≥3 risk factors.