NOD2 genetic variants and sarcoidosis-associated uveitis.

ABSTRACT:

Purpose

Identifying genetic risk factors for developing sarcoidosis-associated uveitis could provide insights into its pathogenesis which is poorly understood.We determine if variants in NOD2 confer an increased risk of developing uveitis in adults with sarcoidosis.

Methods

In this genetic case-control study, 51 total subjects were enrolled: 39 patients diagnosed with sarcoid-related uveitis and 12 patients with systemic sarcoidosis without ocular involvement as controls. Sanger sequencing of the eleven exons of the NOD2 gene was performed on DNA obtained from whole blood. Sanger sequencing data were aligned against the NOD2 NCBI-RefSeq reference sequence to identify novel mutations in uveitis patients. For common variants, allele frequencies in cases ve

SUBMITTER: Davoudi S 

PROVIDER: S-EPMC5757392 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature