Identification of variations in genes encoding ATP-dependent potassium channel proteins in patients with primary Raynaud's phenomenon

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dc.authoridYALIN, Ali Erdinc/0000-0002-3351-6885
dc.contributor.authorAkkapulu, Merih
dc.contributor.authorYildirim, Metin
dc.contributor.authorVezir, Ozden
dc.contributor.authorSucu, Nehir
dc.contributor.authorYalin, Ali Erdinc
dc.date.accessioned2025-03-17T12:25:25Z
dc.date.available2025-03-17T12:25:25Z
dc.date.issued2023
dc.departmentTarsus Üniversitesi
dc.description.abstractPurpose: Primary Raynaud's phenomenon (PRP) is a vascular disorder characterized by recurrent vasospastic response of the fingers and toes to cold or stress. ATP -sensitive potassium (KATP) channels are widely distributed in vasculatures, and play an important role in the vascular tone regulation. The major vascular isoform of KATP channels is composed of Kir6.1/SUR2 (KCNJ8/ABCC9). It would be important to determine whether variations of KATP genes related to PRP is thought to be associated with vasospasm. It is believed that the studies describing mechanisms involved in the pathogenesis of inherited vascular disorders offers the best opportunity for investigation of the early stages of pathogenicity and diagnosis of PRP and associated other diseases. In this study we aim to investigate possible association between genetic variations observed in KATP channel coding genes and vasospasm associated with PRP.Materials and Methods: In our study; the cases with PRP, the relation between the variation in the KCNJ8/ABCC9 genes (S422L/V734I or rs72554071/rs61688134) was examined. 50 subjects who were diagnosed with PRP (patient group) and 50 healthy subjects (control group) were included in the study. Variations were determined using the Tetra-Primer Amplification Refractory Mutation System-Polymerase Chain Reaction (T-ARMS PCR) method.Results: Of the individuals in the patient and control group included in the study, 21 were male and 29 were female. The mean age of the patients was 25.7 +/- 3.36 years, and the mean age of the control group was 25.9 +/- 3.44 years. No significant relationship was found between PRP disease and genotype and allele distribution of KCNJ8/ABCC9 genes.Conclusion: This study presented the first findings about KCNJ8/ABCC9 gene variations in the Turkish population and may lead to future studies. Studies involving a higher number of cases and more mutations will be able to show whether there is a relationship between KATP channels and PRP and contribute to the elucidation of PRP pathogenesis in terms of genetic factors.
dc.description.sponsorshipMersin University Scientific Research Projects Unit [2016-1-TP2-1417]
dc.description.sponsorshipsupport Acknowledgement: This study was supported by Mersin University Scientific Research Projects Unit within the scope of the project numbered 2016-1-TP2-1417.
dc.identifier.doi10.17826/cumj.1168989
dc.identifier.endpage45
dc.identifier.issn2602-3032
dc.identifier.issn2602-3040
dc.identifier.issue1
dc.identifier.scopusqualityN/A
dc.identifier.startpage37
dc.identifier.trdizinid1181497
dc.identifier.urihttps://doi.org/10.17826/cumj.1168989
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1181497
dc.identifier.urihttps://hdl.handle.net/20.500.13099/1674
dc.identifier.volume48
dc.identifier.wosWOS:000960019300005
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakTR-Dizin
dc.language.isoen
dc.publisherCukurova Univ, Fac Medicine
dc.relation.ispartofCukurova Medical Journal
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250316
dc.subjectPrimary Raynaud?s phenomenon
dc.subjectKATP channel proteins
dc.subjectKCNJ8
dc.subjectABCC9 genes
dc.subjectS422L
dc.subjectV734I (rs72554071
dc.subjectrs61688134) variants
dc.titleIdentification of variations in genes encoding ATP-dependent potassium channel proteins in patients with primary Raynaud's phenomenon
dc.typeArticle

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