ERAP1 Gene Expression Is Influenced by Nonsynonymous Polymorphisms Associated With Predisposition to Spondyloarthritis

Arthritis & Rheumatology
Félicie CostantinoMaxime Breban

Abstract

Several polymorphisms in ERAP1 are strongly associated with susceptibility to spondyloarthritis (SpA). The combination of rs17482078, rs10050860, and rs30187 results in the construction of 3 major haplotypes that are associated with SpA (the "protective" haplotype T/T/C, the "neutral" haplotype C/C/C, and the "susceptibility" haplotype C/C/T). The aim of the present study was to determine whether such haplotypes might affect endoplasmic reticulum aminopeptidase 1 (ERAP-1) messenger RNA (mRNA) expression, protein level, and/or enzymatic activity in antigen-presenting cells, a type of cell that is potentially relevant to disease pathogenesis. Monocyte-derived dendritic cells (DCs) were generated in 2 cohorts (a discovery cohort and a replication cohort) comprising a total of 23 SpA patients and 44 healthy controls. Lymphoblastoid B cell lines were established from individuals who were homozygous for the risk, the neutral, or the protective ERAP1 haplotype, respectively. In those samples, we investigated the relationship between ERAP1 haplotypes and mRNA expression level. We also used Western blot analysis to measure the relative protein expression of ERAP-1 and a fluorogenic assay to measure its enzymatic activity. In monocyte-de...Continue Reading

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Citations

Oct 7, 2015·Nature Reviews. Rheumatology·Matthew A BrownB Paul Wordsworth
Nov 4, 2015·Nature Reviews. Rheumatology·Dennis McGonagleHaner Direskeneli
Apr 24, 2015·Current Rheumatology Reports·Maxime BrebanHenri-Jean Garchon
Jul 29, 2018·Bioscience Reports·Emma Reeves, Edward James
Dec 25, 2019·Journal of Human Genetics·Chrysoula DimopoulouRasmus L Marvig
Sep 30, 2019·Annals of the Rheumatic Diseases·Benjamin GrandonMaxime Breban
Aug 16, 2017·Oncoimmunology·Alina SteinbachAngelika B Riemer
Jan 16, 2018·Clinical & Translational Immunology·Zhixiu Li, Matthew A Brown
Jan 9, 2019·Frontiers in Immunology·Félicie CostantinoHenri-Jean Garchon
Nov 15, 2018·Frontiers in Immunology·José A López de Castro
Jan 16, 2021·Seminars in Immunopathology·Maxime BrebanLuiza M Araujo
Feb 23, 2021·The Journal of Biological Chemistry·Jonathan P HutchinsonEfstratios Stratikos
Sep 29, 2021·The Journal of Immunology : Official Journal of the American Association of Immunologists·Akiko ArakawaJörg C Prinz
Dec 24, 2021·The Biochemical Journal·Camila R R BarbosaMichele Mishto
Oct 27, 2020·Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases·Philip Hei LiHo Yin Chung

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