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

Abstract：

: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 no knowledge of variants that alter the expression level of ERAP1, despite previous associations between ERAP1 expression and BD. Here, we used whole-exome sequencing of a patient with a Behçet-like MHC-I-opathy to identify that the patient, unlike its healthy parents, was homozygous for a rare 1-bp deletion, rs140416843, in the promoter region of ERAP1. rs140416843 has not previously been associated with disease, but is linked to ERAP1 haplotype Hap10 which is associated with BD. The expression of ERAP1 by both RT-qPCR and RNA sequencing showed that ERAP1 mRNA expression correlated with the zygosity for the identified deletion and was decreased in comparison to a healthy cohort. In conclusion, we diagnosed the patient as having BD, and hypothesize that rs140416843-mediated changes in ERAP1 expression play a causative role in BD and that this risk factor is contributing to the association between Hap10 and BD. This is the first report to identify a variant that may cause BD by altering the expression of ERAP1, and our findings suggest that downregulation of ERAP1 expression can serve as a diagnostic marker for BD.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Dimopoulou C,Lundgren JD,Sundal J,Ullum H,Aukrust P,Nielsen FC,Marvig RL

doi

10.1038/s10038-019-0709-y

subject

Has Abstract

pub_date

2020-03-01 00:00:00

pages

325-335

issue

3

eissn

1434-5161

issn

1435-232X

pii

10.1038/s10038-019-0709-y

journal_volume

65

pub_type

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