The IL6R variation Asp(358)Ala is a potential modifier of lung function in subjects with asthma.

ABSTRACT:

Background

The IL6R single nucleotide polymorphism (SNP) rs4129267 has recently been identified as an asthma susceptibility locus in subjects of European ancestry but has not been characterized with respect to asthma severity. The SNP rs4129267 is in linkage disequilibrium (r(2) = 1) with the IL6R coding SNP rs2228145 (Asp(358)Ala). This IL6R coding change increases IL-6 receptor (IL-6R) shedding and promotes IL-6 transsignaling.

Objectives

We sought to evaluate the IL6R SNP rs2228145 with respect to asthma severity phenotypes.

Methods

The IL6R SNP rs2228145 was evaluated in subjects of European ancestry with asthma from the Severe Asthma Research Program (SARP). Lung function associations were replicated in the Collaborative Study on the Genetics of Asthma (CSGA) coh

SUBMITTER: Hawkins GA 

PROVIDER: S-EPMC3409329 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature