rs2069849
This is a synonymous variant in the IL6 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Genetic variants in noncoding PIWI‐interacting RNA and colorectal cancer riskAssociationN=280Haiyan Chu et al.(2015)· Cancer
This PhD thesis investigated pharmacogenetics of microRNAs and immune system genes in locally advanced rectal cancer (LARC) patients treated with neoadjuvant chemoradiotherapy. In 265 LARC patients, five SNPs were identified as predictive biomarkers of pathological response: DROSHA-rs10719 (OR=1.87, p=0.0274) and SMAD3-rs17228212 (OR=2.01, p=0.0049) were unfavorable, while SMAD3-rs744910 (OR=0.45, p=0.0153), SMAD3-rs745103 (OR=0.48, p=0.0471), and TRBP-rs6088619 (OR=0.39, p=0.0125) were protective. In 235 LARC patients, three prognostic biomarkers for 2-year disease-free survival were identified: IL17F-rs641701 (HR=3.23, p=0.003), IL17F-rs9463772 (HR=2.89, p=0.002), and STAT3-rs8069645 (HR=0.50, p=0.044).
▶Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: A study in Spanish and Italian populations and meta-analysisFunctionalN=271Docampo E. et al.(2011)· Arthritis & Rheumatism
Exome sequencing and bioinformatic analysis of 271 Italian samples identified 12 coding variants in IL6 and IL6R genes (rs142759801, rs190436077, rs13306435, rs2228145, and others). Variant impact predictions suggest rs190436077 (p.Glu79Gln) in IL6 and rs2228145 (p.Asp358Ala) in IL6R may alter protein structure and binding properties relevant to COVID-19 severity and neuroinflammatory diseases, with potential pharmacogenetic implications.
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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