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27 avril 2021
- doi: 10.1093/hmg/ddab023
- issn: 0964-6906
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info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddab023
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info:eu-repo/semantics/altIdentifier/pmid/33517400
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info:eu-repo/semantics/altIdentifier/eissn/1460-2083
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info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_DFC20881CC510
info:eu-repo/semantics/openAccess , CC BY 4.0 , https://creativecommons.org/licenses/by/4.0/
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T.S. Ahluwalia et al., « Genome-wide association study of circulating interleukin 6 levels identifies novel loci. », Serveur académique Lausannois, ID : 10.1093/hmg/ddab023
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Interleukin 6 (IL-6) is a multifunctional cytokine with both pro- and anti-inflammatory properties with a heritability estimate of up to 61%. The circulating levels of IL-6 in blood have been associated with an increased risk of complex disease pathogenesis. We conducted a two-staged, discovery and replication meta genome-wide association study (GWAS) of circulating serum IL-6 levels comprising up to 67 428 (ndiscovery = 52 654 and nreplication = 14 774) individuals of European ancestry. The inverse variance fixed effects based discovery meta-analysis, followed by replication led to the identification of two independent loci, IL1F10/IL1RN rs6734238 on chromosome (Chr) 2q14, (Pcombined = 1.8 × 10-11), HLA-DRB1/DRB5 rs660895 on Chr6p21 (Pcombined = 1.5 × 10-10) in the combined meta-analyses of all samples. We also replicated the IL6R rs4537545 locus on Chr1q21 (Pcombined = 1.2 × 10-122). Our study identifies novel loci for circulating IL-6 levels uncovering new immunological and inflammatory pathways that may influence IL-6 pathobiology.