Ethnic Differences in the Frequency of the C677T Mutation in the Methylenetetrahydrofolate Reductase (MTHFR) Gene in Healthy Israeli Populations

Abstract

Hyperhomocysteinemia is an independent risk factor for arteriosclerotic vascular disease. It can result from deficiencies of co-factors required for homocysteine metabolism and/or from genetic disorders of its metabolism. The association between the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and vascular disease is controversial, and may be affected by ethnic origin. A unique feature of the Israeli population is its ethnic diversity. The aim of this study was to study the frequency of the C677T MTHFR mutation in healthy Israeli ethnic groups. The frequency of the mutation was determined in 897 young healthy Jewish and Muslim Arab Israelis of eight different ethnic groups. Marked ethnic differences in the frequency of mutant homozygotes were found, ranging from 2% in Yemenite Jews, 4% in Sephardic Jews, 9% in Oriental Jews, 10% in Muslim Arabs, 16% in North African Jews, and 19% in Ashkenazi Jews. The frequency of mutant homozygotes was significantly higher in Ashkenazi Jews compared to Yemenites Oriental Jews, Sephardic Jews, and Muslim Arabs (chi2 = 12.35p < 0.001, chi2 = 8.17p = 0.004, chi2 = 6.04p = 0.01, chi2 = 6.54 p = 0.01, respectively). Our findings demonstrate the need for matching ethnic background in patients and controls when studying the association between the C677T MTHFR mutation and any disease.

Correlation Between C677T MTHFR Gene Polymorphism, Plasma Homocysteine Levels and the Incidence of CAD

“…Notably, similar observations were recently reported by Pollak et al [45] These investigators have detected C677T homozygotes at very different frequencies in the various ethnic groups living in Israel, ranging from the lowest value of 2% found in Yemenite Jews, followed by 4% in Sephardi Jews, 9% in Oriental Jews, 10% in Muslim Arabs, 16% in North African Jews, and the highest value of 19% in Ashkenazi Jews. These findings demonstrate the importance of ethnicity for studies on C677T MTHFR polymorphism and its relation to CAD.…”

Thrombophilic factors in idiopathic intracranial hypertension: a report of 51 patients and a meta-analysis

“…The results revealed a prevalence of 10% homozygosis for MTHFR which is comparable with that in the general population [15]. The prevalence obtained for PGV G20210A (5%) and FVL (1%) was not conclusive due to the relatively small cohort, but certainly does not support the notion of increased prevalence of thrombophilia in IIH regarding the above mentioned three Thrombophilia in IIH patients Kesler et al 331 Table 4 Correlations between BMI, fibrinogen and hs-CRP to coagulation variable…”

Differences in the frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene among the Lebanese population

“…The frequency of heterozygote and homozygote carriers was in agreement with the Hardy-Wienberg equilibrium, with a notable higher prevalence among Christians, which was more prominent in Mount Lebanon, a Christian-dominated province. This was reminiscent of a study on healthy Israeli, where the prevalence of the T/T genotype (10%) among Muslim Arabs, was different from those of Yemenite (2%) and Ashkenazi (19%) Jews [8], suggesting that MTHFR C677T may have occurred on a founder haplotype with a selective advantage [9]. Lebanon has a relatively high prevalence of the T/T genotype (11.04%), comparable to that seen in European countries, including Germany (10.4%) and Greece (10.0%), and South-East Asian communities [South Korea (12.0%), Japan (11.0%) [10], and Taiwan (6.9%)].…”