Genome-wide association identifies diverse causes of common variable immunodeficiency.

ABSTRACT:

Background

Common variable immunodeficiency (CVID) is a heterogeneous immune defect characterized by hypogammaglobulinemia, failure of specific antibody production, susceptibility to infections, and an array of comorbidities.

Objective

To address the underlying immunopathogenesis of CVID and comorbidities, we conducted the first genome-wide association and gene copy number variation (CNV) study in patients with CVID.

Methods

Three hundred sixty-three patients with CVID from 4 study sites were genotyped with 610,000 single nucleotide polymorphisms (SNPs). Patients were divided into a discovery cohort of 179 cases in comparison with 1,917 control subjects and a replication cohort of 109 cases and 1,114 control subjects.

Results

Our analyses detected strong associ

SUBMITTER: Orange JS 

PROVIDER: S-EPMC3646656 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature