Fas and Fas ligand gene polymorphisms in Turkish patients with Familial Mediterranean Fever

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dc.contributor.authorOzel, Emine Gulce
dc.contributor.authorDuran, Gulay Gulbol
dc.contributor.authorCelik, Muhammet Murat
dc.contributor.authorDuran, Nizami
dc.contributor.authorGunesacar, Ramazan
dc.date.accessioned2024-09-18T20:20:00Z
dc.date.available2024-09-18T20:20:00Z
dc.date.issued2017
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractFamilial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder characterized by recurrent fever, serositis, abdominal pain, arthritis, arthralgia and erysipelas like erythema. Fas and Fas ligand molecules play a central role in the apoptosis signaling of various cell types including neutrophils. Neutrophils are the major cell population involved in acute inflammation in patients with FMF and the role of Fas and Fas ligand molecules in this cells of FMF patients may be crucial. Therefore, in the present study, we aimed to investigate whether the Fas cell surface receptor gene (FAS); NM_000043.5: c.-671A > G (rs1800682, Mval) and Fas ligand gene (FASLG), NM_000639.2: c.-844C > T (rs763110, BsrD1) functional polymorphisms in patients with FMF and their relation to the main clinical features of the disease. The polymorphisms in the promoter regions of FAS c.-671A > G and FASLG c.-844C > T were investigated in 97 non-related FMF patients and 70 non-related healthy controls by using PCR-RFLP technique. The frequencies of FAS c-671AG genotype and G allele were not significantly different between FMF patients and healthy subjects. The frequency of FASLG -844TC genotype was found significantly different between the patients with FMF and healthy controls whereas T or C allele frequency was not significantly different between the groups. Haplotype frequencies of the studied polymorphisms were also not significantly different between FMF patients and controls. There were no correlations between the studied FAS c.-671A > G and FASLG c.-844C > T polymorphisms and the main clinical features of FMF such as fever, arthritis, abdominal and chest pain, arthralgia and erysipelas-like erythema. Our findings suggest that FAS c.-671AG genotype or G allele and FASLG c.-844 allele are not to be a risk factor, whereas FASLG c.-844TC genotype may be protective in the studied Turkish population. According to our results we may suggest that although not statistically significant, higher frequencies of FASLG c.-844CC genotype in FMF patients may be related to delayed apoptosis of neutrophils and ultimately cause neutrophilic inflammation by increasing FASLG expression.en_US
dc.description.sponsorshipMustafa Kemal University Scientific Research Projects Unit, Hatay, Turkey [1204Y0137]en_US
dc.description.sponsorshipThis work was supported by a grant from the Mustafa Kemal University Scientific Research Projects Unit, Hatay, Turkey (Project Number: 1204Y0137).en_US
dc.identifier.doi10.1016/j.gene.2017.04.037
dc.identifier.endpage32en_US
dc.identifier.issn0378-1119
dc.identifier.issn1879-0038
dc.identifier.pmid28442396en_US
dc.identifier.scopus2-s2.0-85019652100en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage29en_US
dc.identifier.urihttps://doi.org/10.1016/j.gene.2017.04.037
dc.identifier.urihttps://hdl.handle.net/20.500.12483/10001
dc.identifier.volume623en_US
dc.identifier.wosWOS:000403729800005en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Science Bven_US
dc.relation.ispartofGeneen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectFamilial Mediterranean Fever (FMF)en_US
dc.subjectFASen_US
dc.subjectFASLGen_US
dc.subjectPolymorphismsen_US
dc.titleFas and Fas ligand gene polymorphisms in Turkish patients with Familial Mediterranean Feveren_US
dc.typeArticleen_US

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