Abstract
Hyperhomocysteinemia (hHcy) has been associated with an increased risk of cardiovascular disease and stroke. Essential hypertension (EH), a polygenic condition, has also been associated with increased risk of cardiovascular related disorders. To investigate the role of the homocysteine (Hcy) metabolism pathway in hypertension we conducted a case-control association study of Hcy pathway gene variants in a cohort of Caucasian hypertensives and age- and sex-matched normotensives. We genotyped two polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR C677T and MTHFR A1298C), one polymorphism in the methionine synthase reductase gene (MTRR A66G), and one polymorphism in the methylenetetrahydrofolate dehydrogenase 1 gene (MTHFD1 G1958A) and assessed their association with hypertension using chi-square analysis. We also performed a multifactor dimensionality reduction (MDR) analysis to investigate any potential epistatic interactions among the four polymorphisms and EH. None of the four polymorphisms was significantly associated with EH and although we found a moderate synergistic interaction between MTHFR A1298C and MTRR A66G, the association of the interaction model with EH was not statistically significant (P = 0.2367). Our findings therefore suggest no individual or interactive association between four prominent Hcy pathway markers and EH.
Highlights
Hypertension is defined as a sustained systolic blood pressure of greater than 140 mmHg, a diastolic blood pressure of greater than 90 mmHg, or both [1]
This study investigated whether there is an association between essential hypertension (EH) and the methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, MTRR A66G, and methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) G1958A variants in an Australian case-control cohort
We investigated the homocysteine pathway variants MTHFR C677T, MTHFR A1298C, MTRR A66G, and MTHFD1
Summary
Hypertension is defined as a sustained systolic blood pressure of greater than 140 mmHg, a diastolic blood pressure of greater than 90 mmHg, or both [1]. There are a number of environmental and clinical risk factors associated with EH including, but not limited to, dietary intake of sodium, alcohol intake, lack of exercise, poor diet, obesity, insulin resistant diabetes, and hyperlipidemia. These factors explain a substantial proportion of hypertension susceptibility, it is estimated that up to 60% of the variation in hypertension risk is due to an individual’s genetic makeup [4]. Investigations into the genetic component of hypertension have mainly focussed on the renin-angiotensin-aldosterone (RAA) system because of its importance in regulating normal
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