rs2066992
This is a regulatory region variant variant in the IL6 gene.
▶Research that mentions this SNP (3)
▶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.
▶Gene-gene interaction between RBMS3 and ZNF516 influences bone mineral densityAssociationN=4,606Tie-Lin Yang et al.(2013)· Journal of Bone and Mineral Research
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.
▶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).
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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