Article
Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases.
PLoS genetics - 1 Apr 2013
Ferreira Ricardo C, Freitag Daniel F, Cutler Antony J, Howson Joanna M M, Rainbow Daniel B, Smyth Deborah J, Kaptoge Stephen, Clarke Pamela, Boreham Charlotte, Coulson Richard M, Pekalski Marcin L, Chen Wei-Min, Onengut-Gumuscu Suna, Rich Stephen S, Butterworth Adam S, Malarstig Anders, Danesh John, Todd John A
Abstract excerpt
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...
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