Homocysteinemia and Methylentetrahydrofolate Reductase Gene Mutation as a Risk Factor for Blood Vessel Disease

Dzhekova-Stojkova, S.; Krstevska, Marija; Bosilkova, G.; Trajkovska, S.; Kostovska, Stojanka; Спироски, Мирко; Borozanov, V.; Petlichkovski, Aleksandar; Darkovska, T.

doi:10.3889/mjms.1857-5773.2008.0013

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“…In majority of cases methylenetetrahydrofolate reductase MTHFR genetic polymorphism is responsible for mild to moderate hyperhomocysteinemia and is one of the rare genetic risk factors that has been proven [8,9]. In this sense, it has been shown that folic acid stabilizes and maintains the function of the mutated enzyme, a fact that can help in eventual treatment of hyperhomocysteinemia.…”

Section: Introductionmentioning

confidence: 99%

Distribution of MTHFR C677t Gene Polymorphism in Healthy North Macedonian Population

Brezovska-Kavrakova

Tosheska-Trajkovska

Kostovska

et al. 2021

JMS

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Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme of folate pathway and mutation of the enzyme methylentetrahydrofolate reductase MTHFR C677T gene. But whether it has influence on the level of total homocysteine is still under debate. Several polymorphisms have been reported in MTHFR gene, but C677T polymorphism is the most studied and it has been reported to be a risk factor for several diseases/disorders. Also, extensive studies have been conducted in various ethnic groups.The present study was designed to explore the frequency of MTHFR C677T polymorphism in North Macedonian healthy population.The study group consisted of 123 healthy subjects, benevolent blood donors, who were declared to be healthy by a medical doctor from the National Institute for Transfusion Medicine in R. N. Macedonia. The MTHFR gene polymorphism was analyzed by the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).Our analysis showed that the measurement of the population-genetic parameters of the allelic frequency at the T variable nucleotide had the allelic frequency 0.314. The global prevalence of TT genotype was Hardy -Weinberg's custom with a p value of 0.866, which was excluded from the p value of x 2 test. The remaining parameters, however, indicated the genetically balanced population and they were important for the reliability of the analysis.In the Macedonian population the lowest frequency has the genotype TT and the highest has genotype CT.

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Section: Introductionmentioning

confidence: 99%