Genotype and allele frequencies of the polymorphic methylenetetrahydrofolate reductase gene in Turkey

Abstract

The polymorphic methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms C677T and A1298C cause mild hyperhomocysteinemia, not only in homozygotes for C677T, but also in compound heterozygotes for C677T/A1298C. The aim of this study was to determine allelic frequencies of the polymorphic MTHFR gene C677T, A1298C. In this regard, we have investigated the allelic frequencies of C677T and A1298C polymorphisms of the MTHFR gene in 1684 randomized individuals around Turkey. DNA samples isolated from peripheral blood samples of randomized individuals were analysed. The study population consisted of 1004 females and 680 males. The frequency in Turkey of the C677T was 42.9 %; of C677C, 47.4 %; and of T677T, 9.6 %. The frequency in Turkey of A1298C was 43.7 %; of A1298A, 46.3 %; and of C1298C, 10.0 %. The allelic frequencies of the T allele of MTHFR 677 and the C allele of MTHFR 1298 were 33.34 and 33.16 %, respectively. The frequency of C677T/A1298C compound heterozygosity is highest in Turkey (21.6 %), as compared to Canada (15 %), the United States (17 %) and The Netherlands (20 %).

Prevalence Of Thrombophilic Mutations In Ischemic Stroke Patients In Isparta, Turkey

“…MTHFR mutations cause a slightly higher risk of arterial thrombotic events than of venous thromboembolism (41,45). In accordance with previous findings, our study indicates that the MTHFR C677T mutation is frequent in healthy individuals and that there is no association between this mutation and stroke (46,47). Several studies reported that the MTHFR C677T mutation is not a risk factor for ischemic stroke (44,46,48).…”

“…Similarly, a report on young patients who experienced a stroke originating from a cardiac embolism indicated that the MTHFR gene mutation increases stroke risk (40). We did not observe an association of the MTHFR A1298C and C677T mutations with stroke, confirming a study addressing prevalence of the A1298C mutation in a healthy population in Turkey, and suggesting that MTHFR mutations are not a risk for ischemic stroke (47).…”

The effects of factor V leiden, prothrombin G20210A, MTHFR C677T, MTHFR A1298C, factor XIIIA Val34Leu, factor XIIIB His95Arg and apolipoprotein E genotypes on coronary artery disease

“…Madgy et al [23] found the prevalence of CC variant 45%, CT and TT variants 35% and 20%, respectively. The prevalence of C677T variant has also been studied in a healthy population in Turkey and the frequencies of C677T heterozygosity and homozygosity were reported as 47.4% and 9.6%, respectively [24]. Our results were compatible with the prevalence rates observed in this study.…”

Polymorphisms in methylenetetrahydrofolate reductase gene: Their impact on liver steatosis and fibrosis of chronic hepatitis c patients

“…Hyperhomocysteinemia is frequent in the Caucasian population (more than 15%) and its role in vascular pathology has been clearly established [42]. In hepatology, experimental data in transgenic mice deficient in homocysteine metabolism enzymes have shown the presence of severe liver steatosis with occasional steatohepatitis [43].…”