MTHFR gene C677T and A1298C variants are associated with FMF risk in a Turkish cohort

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dc.authoridYigit, Serbulent / 0000-0002-1019-3964
dc.authoridSEZER, OZLEM / 0000-0001-5727-7965
dc.authoridNursal, Ayse Feyda / 0000-0001-7639-1122
dc.authorwosidSezer, Ozlem / AAT-4372-2020
dc.authorwosidYigit, Serbulent / ABB-9572-2020
dc.contributor.authorNursal, Ayse Feyda
dc.contributor.authorKaya, Suheyla
dc.contributor.authorSezer, Ozlem
dc.contributor.authorKarakus, Nevin
dc.contributor.authorYigit, Serbulent
dc.date.accessioned2021-11-01T15:01:50Z
dc.date.available2021-11-01T15:01:50Z
dc.date.issued2018
dc.department[Belirlenecek]
dc.description.abstractBackgroundMethylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in homocysteine (Hcy) metabolism. We aimed to evaluate a possible relationship between MTHFR gene C677T (rs 1801133), A1298C (rs 1801131) variants and susceptibility to FMF in a Turkish cohort. Material-MethodsThis case-control study included 198 Turkish FMF patients and 100 healthy subjects as controls. MTHFR C677T and A1298C were analyzed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) methods. ResultsThe genotype distribution and allele frequency of the MTHFR C677T were statistically different between the patients and the control group (P=.006, P=.001, respectively). The frequency of the TT genotype and T allele of MTHFR C677T was significantly higher in the patients than in the controls. The genotype distribution of MTHFR A1298C variant did not show any statistically significant difference between the patients and the controls (P=.05). The patients had statistically different frequencies in allele C of MTHFR A1298C variant compared with the control (P=.032). We also examined the risk associated with inheriting the combined genotypes for the two MTHFR variants. According to these results, individuals who were CC homozygous at C677T locus and AA homozygous at A1298C locus have a lower risk of developing FMF (P=.002). Individuals who were TT homozygous at C677T locus and AC heterozygous at A1298C locus have higher risk of developing FMF (P=.033). ConclusionOur findings clearly showed there was an association the MTHFR C677T/A1298C variants and susceptibility to FMF in the Turkish sample.
dc.identifier.doi10.1002/jcla.22259
dc.identifier.issn0887-8013
dc.identifier.issn1098-2825
dc.identifier.issue2en_US
dc.identifier.pmid28543752
dc.identifier.urihttps://doi.org/10.1002/jcla.22259
dc.identifier.urihttps://hdl.handle.net/11491/6713
dc.identifier.volume32en_US
dc.identifier.wosWOS:000425109100035
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.institutionauthor[Belirlenecek]
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofJournal Of Clinical Laboratory Analysis
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectFMFen_US
dc.subjecthomocysteinen_US
dc.subjectmethylenetetrahydrofolate reductaseen_US
dc.subjectvarianten_US
dc.titleMTHFR gene C677T and A1298C variants are associated with FMF risk in a Turkish cohort
dc.typeArticle

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