{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ferreira RC"],"funding":["British Heart Foundation","NIDDK NIH HHS","Medical Research Council","National Institute for Health Research (NIHR)","Wellcome Trust"],"pagination":["e1003444"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3617094"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9(4)"],"pubmed_abstract":["Inflammation, which is directly regulated by interleukin-6 (IL-6) signaling, is implicated in the etiology of several chronic diseases. Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358Ala; rs2228145 A>C) is associated with the risk of several common diseases, with the 358Ala allele conferring protection from coronary heart disease (CHD), rheumatoid arthritis (RA), atrial fibrillation (AF), abdominal aortic aneurysm (AAA), and increased susceptibility to asthma, the variant's effect on IL-6 signaling is not known. Here we provide evidence for the association of this non-synonymous variant with the risk of type 1 diabetes (T1D) in two independent populations and confirm that rs2228145 is the major determinant of the concentration of circulating soluble IL-6R ("],"journal":["PLoS genetics"],"pubmed_title":["Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases."],"pmcid":["PMC3617094"],"funding_grant_id":["096388","100140","076113/C/04/Z","061858","068545/Z/02","091157","RG/08/014/24067","NF-SI-0508-10275","G0000934","RG/08/014","MR/L003120/1","NF-SI-0512-10165","U01 DK062418"],"pubmed_authors":["Rainbow DB","Cutler AJ","Smyth DJ","Ferreira RC","Clarke P","Rich SS","Onengut-Gumuscu S","Malarstig A","Kaptoge S","Howson JM","Freitag DF","Chen WM","Danesh J","Coulson RM","Todd JA","Boreham C","Butterworth AS","Pekalski ML"],"additional_accession":[]},"is_claimable":false,"name":"Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases.","description":"Inflammation, which is directly regulated by interleukin-6 (IL-6) signaling, is implicated in the etiology of several chronic diseases. Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358Ala; rs2228145 A>C) is associated with the risk of several common diseases, with the 358Ala allele conferring protection from coronary heart disease (CHD), rheumatoid arthritis (RA), atrial fibrillation (AF), abdominal aortic aneurysm (AAA), and increased susceptibility to asthma, the variant's effect on IL-6 signaling is not known. Here we provide evidence for the association of this non-synonymous variant with the risk of type 1 diabetes (T1D) in two independent populations and confirm that rs2228145 is the major determinant of the concentration of circulating soluble IL-6R (","dates":{"release":"2013-01-01T00:00:00Z","publication":"2013 Apr","modification":"2026-05-04T14:02:03.496Z","creation":"2026-04-07T20:34:28.34Z"},"accession":"S-EPMC3617094","cross_references":{"pubmed":["23593036"],"doi":["10.1371/journal.pgen.1003444"]}}