# Analysis of Genetic Variants MTHFR C677T, ACE I/D, AT1R A1166C and eNOS 4a/b in the Context of Essential Hypertension Susceptibility

## TL;DR

This study examines how specific genetic variants and lifestyle factors like smoking influence the risk of essential hypertension in a Romanian population.

## Contribution

The study identifies the role of ACE I/D and MTHFR C677T variants in essential hypertension and their interaction with smoking.

## Key findings

- ACE DD and MTHFR TT genotypes are associated with increased essential hypertension risk.
- Smoking combined with these genotypes further elevates the risk of essential hypertension.
- AT1R A1166C and eNOS 4a/b variants do not show significant association with essential hypertension.

## Abstract

Arterial hypertension (AH) is an important risk factor for cardiovascular diseases, a group of diseases that constitutes the most frequent cause of death worldwide. Most AH patients globally are diagnosed with essential hypertension (EH), since they do not present an identifiable cause for high blood pressure (HBP). The aim of this study was to assess the associations between EH and genetic variants MTHFR C677T, ACE I/D, AT1R A1166C and eNOS 4a/b in the adult Caucasian population of Romania. Methods: A case–control study was conducted including 845 EH patients and 845 controls. Clinical, para-clinical and lifestyle data were collected from each patient, as well as blood samples for genotyping the polymorphisms of four candidate genes for EH—MTHFR C677T (rs1801133), ACE I/D (rs4646994), AT1R A1166C (rs5186) and eNOS 4a/b—using PCR-based methods. Results: EH was associated with both genetic and environmental factors. Carriers of ACE DD and MTHFR TT genotypes presented an increased risk for EH (ACE DD: OR = 1.44, p = 0.0007; MTHFR TT: OR = 1.46, p = 0.0007). Lifestyle (smoking, physical activity) aspects were associated with EH. The risk of EH increased when both polymorphisms were associated with smoking (ACE DD: OR = 1.62, p = 0.0005; MTHFR TT: OR = 1.68, p = 0.0004). Conclusions: Our findings indicate that ACE I/D and MTHFR C677T may play a role in EH susceptibility, whereas polymorphisms AT1R A1166C and eNOS 4a/b do not appear to be associated. Furthermore, the interaction between genetic factors (ACE I/D, MTHFR C677T) and lifestyle factors such as smoking suggests an increased risk for developing essential hypertension.