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Article

Variant in ERAP1 promoter region is associated with low expression in a patient with a Behçet-like MHC-I-opathy.

Journal of human genetics - 1 Mar 2020

Dimopoulou Chrysoula, Lundgren Jens D, Sundal Jon, Ullum Henrik, Aukrust Pål, Nielsen Finn C, Marvig Rasmus L

Abstract excerpt

Behçet disease (BD) is an immune-mediated disease. The cause of BD remains unknown, but the existence of multiple pathological pathways is suspected, including different genetic factors. Polymorphisms in ERAP1 gene have been associated with an increased risk of BD. However, while current BD-associated ERAP1 variants are suggested to contribute to disease by altering the activity of the encoded protein, there is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31873220
DOI: 10.1038/s10038-019-0709-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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