The association of endoplasmic reticulum aminopeptidase-1 (ERAP-1) with Familial Mediterranean Fever (FMF)

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dc.authorid0000-0002-0774-2766en_US
dc.authorid0000-0002-3507-5083en_US
dc.authorid0000-0003-1895-7217en_US
dc.authorid0000-0002-4936-3705en_US
dc.contributor.authorSezgin, Gulbuz
dc.contributor.authorDabak, Resat
dc.contributor.authorKaya, Fatih Oner
dc.contributor.authorKotevoglu, Nurdan
dc.contributor.authorUygur-Bayramicli, Oya
dc.contributor.authorNalbant, Selim
dc.date.accessioned2024-07-12T21:56:58Z
dc.date.available2024-07-12T21:56:58Z
dc.date.issued2016en_US
dc.departmentMaltepe Üniversitesien_US
dc.description.abstractBackground: The ERAP1 gene cleaves the receptors and reduces their ability to transmit chemical signals to the cell that affect the process of inflammation and, secondly, it cleaves many types of proteins into small peptides that are recognized by the immune system. Objective: ERAP-1 gene mutations may create a sensitivity for Familial Mediterranean Fever (FMF). Method: We included 15 FMF patients with the M694 (+) mutation in the study in order to exclude patients without pyrin gene mutations and create a homogeneous study group. Fifteen patients with ulcerative colitis formed the control group. Results: There wasn't any case without ERAP-1 gene mutations. At least one mutation at exon 3 or exon 10 was found in all cases in both groups. There were 14 ERAP-1 gene mutations at exon 10 and 11 at exon 3 in patients with FMF. Interestingly, if there were ERAP-1 gene mutations at exon 3, a p.Arg127 Pro (c.380G>C) mutation always existed for three FMF patients with polymorphic mutations at this exon. There were 11 ERAP-1 gene mutations at exon 10 and 12 gene mutations at exon 3 in patients with ulcerative colitis. Exon 3 mutations were usually single p.Arg127 Pro (c.380G>C) mutations for 12 patients with ulcerative colitis as seen in the patients with FMF. The single mutation was always p.Ser453 Ser (c.1359T>C) for patients with ulcerative colitis at exon 10. Conclusion: There are more ERAP-1 mutations in the FMF group in comparison to the ulcerative colitis group. So, there may be a strong susceptibility to ERAP-1 gene mutations in FMF patients according to our results. However, further studies with larger study and control groups are needed.en_US
dc.description.sponsorshipTurkish Foundation for Family Physicians (TAHEV)en_US
dc.description.sponsorshipThis work was supported by our hospital's local revolving fund with the permission of the academic committee of the hospital, and the Turkish Foundation for Family Physicians (TAHEV).en_US
dc.identifier.doi10.1177/2050640615584536
dc.identifier.endpage96en_US
dc.identifier.issn2050-6406
dc.identifier.issn2050-6414
dc.identifier.issue1en_US
dc.identifier.pmid26966528en_US
dc.identifier.scopus2-s2.0-84979462459en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage92en_US
dc.identifier.urihttps://dx.doi.org/10.1177/2050640615584536
dc.identifier.urihttps://hdl.handle.net/20.500.12415/8631
dc.identifier.volume4en_US
dc.identifier.wosWOS:000370752800012en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherSAGE PUBLICATIONS INCen_US
dc.relation.ispartofUNITED EUROPEAN GASTROENTEROLOGY JOURNALen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmzKY03959
dc.subjectERAP-1en_US
dc.subjectFMFen_US
dc.subjectulcerative colitisen_US
dc.subjectpyrin gene mutationsen_US
dc.titleThe association of endoplasmic reticulum aminopeptidase-1 (ERAP-1) with Familial Mediterranean Fever (FMF)en_US
dc.typeArticle
dspace.entity.typePublication

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