Rare and common variants in ERAP1 and ERAP2 selected for in response to Yersinia pestis infection contribute to autoimmune disease including inflammatory bowel disease.

ABSTRACT: Endoplasmic reticulum aminopeptidases (ERAP) facilitate antigen presentation. Variation in ERAP1 and ERAP2 genes underwent selection during the Black Death and impact autoimmune disease susceptibility. We assess the burden of functionally impactful variants present in ERAP1 and ERAP2 in 2 cohorts of patients diagnosed with inflammatory bowel disease (IBD; Crohn's disease (CD) or ulcerative colitis (UC)). We analysed the Southampton Genetics of IBD cohort comprising patients diagnosed with IBD, with exome and clinical data on autoimmune comorbidities (n_CD = 661, n_UC = 330); and a subset of UK Biobank IBD patients and selected controls (n_CD = 891, n_UC = 1409, n_control = 60,075). Common single variants (minor-allele-frequency > 0.05) unde

SUBMITTER: Win LK 

PROVIDER: S-EPMC12722269 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature