A putative functional variant within the UBAC2 gene is associated with increased risk of Behcet's disease.

ABSTRACT:

Objective

Using a genome-wide association scan and DNA pooling, we previously identified 5 novel genetic susceptibility loci for Behçet's disease. We undertook this study to establish the genetic effect within the UBAC2 gene, in the course of which we replicated this genetic association and identified a functional variant within this locus.

Methods

We studied a total of 676 Behçet's disease patients and 1,096 controls. The discovery set included 156 patients and 167 controls from Turkey, and the replication sets included 376 patients and 369 controls from Turkey and 144 patients and 560 controls from Italy. Genotyping of 14 single-nucleotide polymorphisms (SNPs) within and around UBAC2 was performed using TaqMan SNP genotyping assays.

Results

The genetic association b

SUBMITTER: Sawalha AH 

PROVIDER: S-EPMC3205238 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature