Genetic Variants in the MTHFR and WNK1 Genes and Their Contribution to Hypertension Susceptibility.

摘要

BACKGROUND: Hypertension (HTN) is a common and complex disorder influenced by multiple genetic and environmental factor, where the underlying mechanisms of its etiology remain incompletely understood although the identification of several contributing elements. This research sought to evaluate the possible relationship between genetic polymorphisms in methylenetetrahydrofolate reductase (MTHFR) and With-No-Lysine Kinase 1 (WNK1) genes and susceptibility to hypertension. METHOD: Genomic DNA was extracted from blood samples collected from 220 individuals with hypertension and 220 normotensive controls. Genotyping of MTHFR (rs1801133 and rs1801131) and WNK1 (AluYb8) polymorphisms was performed using direct PCR and PCR-RFLP techniques. The resulting data were subjected to appropriate statistical analyses. RESULTS: A statistically significant association was identified between the rs1801131 polymorphism of the MTHFR gene and susceptibility to hypertension (p = 0.0006). This association remained significant under the codominant, dominant, and recessive genetic models, with all p-values < 0.016. Furthermore, the CC haplotype of the MTHFR gene showed a significant association with hypertension (OR = 2.02, p = 1e-04). CONCLUSION: These findings indicate that the MTHFR rs1801131 polymorphism is significantly associated with hypertension susceptibility and may represent a potential genetic marker. This highlights its relevance for future studies exploring genotype-driven risk assessment and personalized approaches to hypertension management.