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Genotyping of Italian patients with Behçet syndrome identified two novel ERAP1 polymorphisms using sequencing-based approach.

Authors
  • Padula, Maria Carmela1
  • Leccese, Pietro2
  • Lascaro, Nancy3
  • Carbone, Teresa4
  • Gilio, Michele5
  • Padula, Angela Anna6
  • Martelli, Giuseppe7
  • D'Angelo, Salvatore8
  • 1 Rheumatology Institute of Lucania (IReL) and Rheumatology Department of Lucania, San Carlo Hospital of Potenza, via Potito Petrone, Potenza 85100, Italy; Department of Science, University of Basilicata, viale dell'Ateneo Lucano, Potenza 85100, Italy. Electronic address: [email protected] , (Italy)
  • 2 Rheumatology Institute of Lucania (IReL) and Rheumatology Department of Lucania, San Carlo Hospital of Potenza, via Potito Petrone, Potenza 85100, Italy. Electronic address: [email protected] , (Italy)
  • 3 Rheumatology Institute of Lucania (IReL) and Rheumatology Department of Lucania, San Carlo Hospital of Potenza, via Potito Petrone, Potenza 85100, Italy. Electronic address: [email protected] , (Italy)
  • 4 Rheumatology Institute of Lucania (IReL) and Rheumatology Department of Lucania, San Carlo Hospital of Potenza, via Potito Petrone, Potenza 85100, Italy. Electronic address: [email protected] , (Italy)
  • 5 Rheumatology Institute of Lucania (IReL) and Rheumatology Department of Lucania, San Carlo Hospital of Potenza, via Potito Petrone, Potenza 85100, Italy. , (Italy)
  • 6 Rheumatology Institute of Lucania (IReL) and Rheumatology Department of Lucania, San Carlo Hospital of Potenza, via Potito Petrone, Potenza 85100, Italy. Electronic address: [email protected] , (Italy)
  • 7 Department of Science, University of Basilicata, viale dell'Ateneo Lucano, Potenza 85100, Italy. Electronic address: [email protected] , (Italy)
  • 8 Rheumatology Institute of Lucania (IReL) and Rheumatology Department of Lucania, San Carlo Hospital of Potenza, via Potito Petrone, Potenza 85100, Italy; Basilicata Ricerca Biomedica (BRB) Foundation, Matera 75100, Italy. , (Italy)
Type
Published Article
Journal
Human immunology
Publication Date
May 01, 2019
Volume
80
Issue
5
Pages
335–338
Identifiers
DOI: 10.1016/j.humimm.2019.02.003
PMID: 30742879
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

The endoplasmic reticulum aminopeptidase protein 1 gene (ERAP1) is related to several human diseases, including Behçet syndrome (BS), a multisystemic disorder with unknown etiology. ERAP1 is involved in immune response and its role can be influenced by gene single nucleotide variations (SNVs). We genotyped the ERAP1 whole structure in 50 consecutive BS patients and 50 ethnically-matched healthy controls using both bioinformatics and molecular methodologies. We identified two novel heterozygous missense SNVs of ERAP1 exon3 responsible for the p.Glu183Val and p.Phe199Ser changes. The first variation was recognized in 7/50 (14%) BS patients and involved the substrate binding site (p.Glu183) required for the anchorage of the peptide N-terminal group. The SNV was predicted to be a damaging variation, as well as the p.Phe199Ser substitution (PolyPhen-2 and SIFT on line software). 3D protein structure prediction showed a change in energy score when the wild-type and the variant states were compared, probably influencing the substrate binding and the protein folding. The first variation was associated to a more stable protein chain, while the second polymorphism was related to a less stable protein chain. Our data need to be tested in larger genetic studies. Copyright © 2019. Published by Elsevier Inc.

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