rs2069840
This is a upstream gene variant variant in the IL6 gene.
▶Research that mentions this SNP (5)
▶Genetics of IL6 polymorphisms: Case–control study of the risk of endometrial cancerAssociationN=279Junhong Cai et al.(2019)· Molecular Genetics & Genomic Medicine
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.
▶Polymorphisms of the interleukin 6 gene and additional gene–gene interaction contribute to cervical cancer susceptibility in Eastern Chinese womenAssociationN=1,088Xiaowen Pu et al.(2016)· Archives of Gynecology and Obstetrics
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).
▶Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor statusAssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis
A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).
▶Polymorphisms of the Interleukin 6 gene contribute to cervical cancer susceptibility in Eastern Chinese womenAssociationN=3,352Ting-Yan Shi et al.(2013)· Human Genetics
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 the genetic basis of CRP regulation in African Americans: a Bayesian approachAssociationN=594Benjamin Rhodes et al.(2008)· Human Genetics
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.
About IL6
This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. Elevated levels of the encoded protein have been found in virus infections, including COVID-19 (disease caused by SARS-CoV-2). [provided by RefSeq, Aug 2020]
View all IL6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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