Contribution of thermolabile methylenetetrahydrofolate reductase variant to total plasma homocysteine levels in healthy men and women. Inter99 (2)

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Abstract
Elevation in plasma total homocysteine (tHcy) is believed to be causally related to cardiovascular disease. Like age and sex, the thermolabile variant of methylenetetrahydrofolate reductase (MTHFR(C677T)) is an important nonmodifiable determinant of tHcy, which may be considered when describing normal ranges of tHcy in the general population. We investigated the simultaneous effect of sex, age, and MTHFR(C677T) genotype on the distribution of tHcy in a cross-sectional study design. THcy concentrations and MTHFR(C677T) genotype were determined in a population-based sample of 2,788 Danish men and women aged 30–60 years participating in the Inter99 Study. The prevalences of MTHFR(C677T) genotypes were 48.8% (CC), 42.4% (CT), and 8.8% (TT). The overall median tHcy was 8.1 µmol/l, and the 2.5–97.5 percentiles were 4.8–17.8 µmol/l. The estimated proportionally higher level of tHcy in men compared to women was 14.3% (PPPPPGenet Epidemiol 24:322–330, 2003.