Bcii-RFLP profiles for serum amiloid A1 and mutated MEFV gene prevalence in chronic renal failure patients requiring long-term hemodialysis

dc.authoridKucuk KURTULGAN, Hande/0000-0001-9172-3244
dc.authoridAYDIN, SELMA/0000-0003-4231-3980
dc.contributor.authorÖzdemir, Öztürk
dc.contributor.authorKayatas, Mansur
dc.contributor.authorCetinkaya, Selma
dc.contributor.authorYildirim, Malik Ejder
dc.contributor.authorSılan, Fatma
dc.contributor.authorKurtulgan, Hande Kucuk
dc.contributor.authorKoksal, Binnur
dc.date.accessioned2025-01-27T20:29:39Z
dc.date.available2025-01-27T20:29:39Z
dc.date.issued2015
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractBackground and aim: There is an increased mortality risk in long-term hemodialysis patients of renal failure due to the chronic inflammation. The relationship between the chronic renal failure (CRF) and the role of familial genetic markers remains incompletely understood. In the current study, it was aimed to find out the prevalence of common MEFV gene mutations and BcII polymorphism in serum amyloid A1 (SAA1) gene in chronic renal patients (CRF) who require long-term hemodialysis. Method: Current cohort includes 242 CRF patients and 245 healthy individuals from the same population. Total genomic DNA was isolated from peripheral blood-EDTA samples and genotyping of target MEFV gene was carried out by reverse hybridization Strip Assay and real-time techniques. The SAA1 gene was genotyped by the BcII-RFLP method. Results: Increased mutated MEFV genotypes were found in current CRF patients when compared with the control group from the same ethnicity and the difference was statistically significant (Table 2) (OR: 4.9401, 95% CI: 3.0694-7.9509), p < 0.0001. The most frequent point mutations were M694V and E148Q. The mutated T allel frequency in the SAA1 gene was also different when compared with the healthy controls and the difference was found to be statistically significant (chi(2) : 13.18; p = 0.000). Conclusions: The current results indicate the germline mutations in both genetic biomarkers (MEFV and SAA1 genes) that are related to inflammation and amyloidosis processes may play a crucial role in CRF pathogenesis due to the long-term chronic inflammation.
dc.description.sponsorshipCUBAP, Cumhuriyet University, Sivas, Turkey
dc.description.sponsorshipThe authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper. This project was funded by CUBAP, Cumhuriyet University, Sivas, Turkey.
dc.identifier.doi10.3109/0886022X.2014.982954
dc.identifier.endpage296
dc.identifier.issn0886-022X
dc.identifier.issn1525-6049
dc.identifier.issue2
dc.identifier.pmid25394530
dc.identifier.scopus2-s2.0-84923134537
dc.identifier.scopusqualityQ2
dc.identifier.startpage292
dc.identifier.urihttps://doi.org/10.3109/0886022X.2014.982954
dc.identifier.urihttps://hdl.handle.net/20.500.12428/23006
dc.identifier.volume37
dc.identifier.wosWOS:000350554300021
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherTaylor & Francis Ltd
dc.relation.ispartofRenal Failure
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20250125
dc.subjectChronic renal failure
dc.subjectcommon MEFV mutations
dc.subjecthemodialysis
dc.subjectSAA1 gene BcII/RFLP polymorphism
dc.titleBcii-RFLP profiles for serum amiloid A1 and mutated MEFV gene prevalence in chronic renal failure patients requiring long-term hemodialysis
dc.typeArticle

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