A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behcet's disease in HLA-B*51 carriers.

ABSTRACT:

Introduction

Endoplasmic reticulum aminopeptidase-1 (ERAP1) protein is highly polymorphic with numerous missense amino acid variants. We sought to determine the naturally occurring ERAP1 protein allotypes and their contribution to Behçet's disease.

Methods

Genotypes of all reported missense ERAP1 gene variants with 1000 Genomes Project EUR superpopulation frequency >1% were determined in 1900 Behçet's disease cases and 1779 controls from Turkey. ERAP1 protein allotypes and their contributions to Behçet's disease risk were determined by haplotype identification and disease association analyses.

Results

One ERAP1 protein allotype with five non-ancestral amino acids was recessively associated with disease (p=3.13×10^-6, OR 2.55, 95% CI 1.70 to 3.82). The ERAP1

SUBMITTER: Takeuchi M 

PROVIDER: S-EPMC5106293 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature