Replication study confirms the association between UBAC2 and Behcet's disease in two independent Chinese sets of patients and controls.

ABSTRACT:

Introduction

The purpose of this study was to replicate genetic factors associated with the susceptibility to Behçet's disease (BD). We conducted a two-stage candidate genes association and functional study, involving 477 BD patients and 1,334 normal controls of Chinese Han descent.

Methods

The genotyping of five candidate genes/loci, including LOC100129342, KIAA1529, CPVL, UBASH3B and UBAC2, were performed using TaqMan single nucleotide polymorphism (SNP) assays. Real-time PCR and luciferase reporter assay were performed to test the function of the identified promoter polymorphism. The main outcome measures were genotype frequencies and expression levels in BD patients.

Results

The first-stage study results showed that UBAC2 (rs9513584, Pc = 0.018, OR = 1.4), but not

SUBMITTER: Hou S 

PROVIDER: S-EPMC3446441 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature