rs2069837

Case-control study of 81 endometrial cancer patients and 198 controls in Hainan Chinese Han women examined IL4 and IL6 gene polymorphisms. Two IL6 SNPs showed significant associations with endometrial cancer risk: rs1524107 (T/C, OR = 1.61, p = 0.0155) and rs2066992 (T/G, OR = 3.09, p = 3.13 × 10⁻⁹). No IL4 SNPs were significantly associated with endometrial cancer risk.

Case-control study of 412 Chinese Han Takayasu arteritis patients and 597 controls identified four IL12B SNPs significantly associated with disease susceptibility: rs6871626 (OR=1.52, 95% CI 1.26-1.83), rs4921492 (OR=1.46), rs60689680 (OR=1.41), and rs4921493 (OR=1.45). Meta-analysis across four populations confirmed rs6871626 as a susceptible locus (pooled OR=1.51). IL6 rs2069837 showed no association.

This case-control study of 1,088 Chinese Han women (360 cases, 728 controls) found that IL-6 gene polymorphisms rs1800795 and rs2069837 were significantly associated with cervical cancer risk, with adjusted OR 1.60 (95% CI 1.24-2.19) and 1.49 (95% CI 1.19-2.07) respectively. GMDR analysis revealed significant gene-gene interaction between these two SNPs (p=0.0010), with combined genotypes (GC/CC + AG/GG) conferring highest risk: OR 3.35 (95% CI 2.01-4.78).

This candidate gene association study of 370 CCA cases and 740 controls identified initial associations between COX-2 variants rs2143417 (OR=1.52) and rs689466 (OR=1.36) and cholangiocarcinoma risk; however, these findings failed replication in an independent cohort of 212 cases and 424 controls (rs2143417 OR=1.04, rs689466 OR=1.08). No SNP variants showed significant associations with CCA survival, and NKG2D variants previously reported to be associated with CCA did not replicate.

Gene-gene interaction study identifying pairwise SNP interactions influencing bone mineral density (BMD) in Caucasian and African samples. Discovery analysis in Kansas City (2,286) and Omaha (1,000) samples identified RBMS3 rs6549904 and rs7640046 interacting with ZNF516 rs4891159 with highly significant p-values (7.04×10⁻¹¹ and 1.03×10⁻¹⁰), with interaction ORs of 3.19-4.82. Replication in Framingham Heart Study confirmed findings (p=8.07×10⁻³ and p=2.91×10⁻³), though African American sample showed opposite directional effect, suggesting ancestry-dependent genetic architecture of osteoporosis.

Two-stage case-control study (1,584 cervical cancer cases, 1,768 controls) in Eastern Chinese women found IL6 rs2069837 SNP associated with increased cervical cancer risk (OR 1.27, 95% CI 1.08-1.49, dominant model, p=0.004; OR 1.19, 95% CI 1.04-1.36, additive model, p=0.014). IL6 rs2069837 AG/GG carriers showed significantly higher IL6 protein expression levels than AA carriers. Evidence of gene-environment interaction with age at primiparity and menopausal status in cervical cancer development.

Fine-mapping study of C-reactive protein (CRP) regulation in 594 African Americans using dense SNP genotyping and Bayesian model selection. Found rs3091244(T) allele as the key functional variant regulating CRP expression with additive effects (Bayes factor >100), explaining 5.20% of CRP variance with β=0.312 (95% CI 0.146-0.491). Secondary analysis supported a two-SNP model including rs12728740, which segregated with European-origin haplotypes. The study demonstrates that weaker linkage disequilibrium in African Americans resolved genetic ambiguity seen in European populations.