Rare variants at 16p11.2 are associated with common variable immunodeficiency.

ABSTRACT:

Background

Common variable immunodeficiency (CVID) is characterized clinically by inadequate quantity and quality of serum immunoglobulins with increased susceptibility to infections, resulting in significant morbidity and mortality. Only a few genes have been uncovered, and the genetic background of CVID remains elusive to date for the majority of patients.

Objective

We sought to seek novel associations of genes and genetic variants with CVID.

Methods

We performed association analyses in a discovery cohort of 164 patients with CVID and 19,542 healthy control subjects genotyped on the Immuno BeadChip from Illumina platform; replication of findings was examined in an independent cohort of 135 patients with CVID and 2,066 healthy control subjects, followed by meta-analy

SUBMITTER: Maggadottir SM 

PROVIDER: S-EPMC4461447 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature