Abstract

BackgroundHypertension is a serious condition that is spread worldwide and may lead to severe complications such as heart attack, stroke, hypertensive retinopathy, and renal failure. Although some genetic and environmental risk factors are known to play a role in the etiology of hypertension, like most of the other multi-factorial diseases, its etiology is yet to be fully elucidated. Our study aimed to investigate the effects of methylenetetrahydrofolate reductase (MTHFR) C677T (rs1801133) and A1298C (rs1801131), factor V Leiden (FVL) G1691A (rs6025), and prothrombin (PT) G20210A (rs1799963) genetic polymorphisms on the development risk of essential hypertension and level of blood pressure in hypertensive patients.ResultsThe frequency of the homozygous polymorphic TT genotype for the MTHFR C677T polymorphism was significantly higher in male hypertensive patients than in the male control group (27% vs 6.3%, p = 0.028). The rate of the variant T allele for the MTHFR C677T polymorphism was also significantly higher in male hypertensive patients compared to male healthy controls (51.4% vs 21.9%, p = 0.0004). There was no difference among hypertensive patients and healthy controls regarding the frequencies of MTHFR A1298C, FVL G1691A and PT G20210A polymorphisms. In addition, we found no difference between genotype groups regarding systolic and diastolic blood pressure levels in hypertensive patients.ConclusionsHomozygous polymorphic TT genotype and variant T allele for the MTHFR C677T polymorphism may be considered as a risk factor for the development of essential hypertension in the Turkish male population.

Highlights

  • Hypertension is a serious condition that is spread worldwide and may lead to severe complications such as heart attack, stroke, hypertensive retinopathy, and renal failure

  • The frequency of the homozygous polymorphic TT genotype for the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism was significantly higher in male hypertensive patients than in the male control group (27% vs 6.3%, p = 0.028)

  • The rate of the variant T allele for the MTHFR C677T polymorphism was significantly higher in male hypertensive patients compared to male healthy controls (51.4% vs 21.9%, p = 0.0004) In contrast, there was no statistically significant difference among the groups about MTHFR C677T polymorphism in female participants

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Summary

Introduction

Hypertension is a serious condition that is spread worldwide and may lead to severe complications such as heart attack, stroke, hypertensive retinopathy, and renal failure. Our study aimed to investigate the effects of methylenetetrahydrofolate reductase (MTHFR) C677T (rs1801133) and A1298C (rs1801131), factor V Leiden (FVL) G1691A (rs6025), and prothrombin (PT) G20210A (rs1799963) genetic polymorphisms on the development risk of essential hypertension and level of blood pressure in hypertensive patients. It has been shown that essential hypertension is caused by various environmental and genetic factors [2]. The methylenetetrahydrofolate reductase (MTHFR) gene is involved in homocysteine and folate metabolism. Reports have shown that mutations in the MTHFR gene are associated with an increased risk of cardiovascular disease as well as increased blood pressure [4]. Homozygous polymorphic TT genotype for the MTHFR C677T polymorphism is the only hereditary risk factor that has been identified to be associated with increased blood pressure [8]. There are many studies in the literature that investigated the association between variants of MTHFR and development risk of essential hypertension, the results of these studies are not conclusive [4]

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