Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics.

ABSTRACT:

Purpose of review

This article will review the genetic evidence implicating ERAP1, which encodes the endoplasmic reticulum-associated amino-peptidase 1, in susceptibility to rheumatic disease.

Recent findings

Genetic variants and haplotypes of ERAP1 are associated with AS, psoriasis, and Behçet's disease in people of varying ancestries. In each of these diseases, disease-associated variants of ERAP1 have been shown to interact with disease-associated class I human leukocyte antigen alleles to influence disease risk. Functionally, disease-associated missense variants of ERAP1 concertedly alter ERAP1 enzymatic function, both quantitatively and qualitatively, whereas other disease-associated variants influence ERAP1 expression. Therefore, ERAP1 haplotypes (or allotypes) should

SUBMITTER: Ombrello MJ 

PROVIDER: S-EPMC4565054 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature