rs1554606
This variant is located in the IL6 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (2)
▶Genome-wide associated loci influencing interleukin (IL)-10, IL-1Ra, and IL-6 levels in African AmericansAssociationN=707Fasil Tekola Ayele et al.(2012)· Immunogenetics
This genome-wide association study (GWAS) identified genetic variants influencing interleukin levels in African Americans. IL-10 levels showed genome-wide significant associations with 8 SNPs, most notably rs5743185 in PMS1 (p=2.30×10⁻¹⁰), with successful replication of rs17365948 in YWHAZ. IL-1Ra levels showed suggestive associations with SNPs in ASB3 and the IL-1 gene family, with replication of rs4251961. IL-6 levels showed genome-wide significant association with one variant near RP11-314E23.1 (p=8.63×10⁻⁹).
▶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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