rs2107356

Population-based case-control study of Connecticut women showing that genetic polymorphisms in IL10RA (rs9610) and TNF (rs1800629) genes modify the association between blood transfusion and non-Hodgkin lymphoma (NHL) risk. IL10RA rs9610 GG genotype carriers with transfusion history had increased NHL risk (OR=1.9, 95% CI: 1.1-3.2), while AG/AA carriers had decreased risk (OR=0.6, 95% CI: 0.4-0.9), with significant gene-transfusion interaction (P=0.003).

This case-control genetic association study identified rs3093301 within the IL21R gene as a novel susceptibility locus for systemic lupus erythematosus (SLE), with consistent association in two independent European-derived and Hispanic cohorts (meta-analysis OR=1.16, 95% CI=1.08-1.25, p=1.0×10⁻⁴). The risk allele (A) was associated with increased frequency of malar rash manifestation in lupus patients (OR=2.83). The study genotyped 17 SNPs in IL21R across 2,573 European and 657 Hispanic lupus cases with ethnically-matched controls.

A case-control study of 127 multiple myeloma (MM) cases and 545 controls examined 82 common variants in 45 genes mediating immunity. IL4R rs2107356 (−28120T homozygotes, OR=1.91, 95% CI 1.08-3.38) and FCGR2A rs1801274 (−120G homozygotes, OR=1.95, 95% CI 1.06-3.60) were significantly associated with increased MM risk. A haplotype in the LTA*TNF complex (LTA −82C/−90G*TNF −1036C/−487G/−417G, OR=1.63, 95% CI 1.02-2.61) was also associated with increased MM risk compared to controls.