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The relevance of HIF1A gene polymorphisms and primary hypertensive left ventricular hypertrophy in Chinese Han

Z-L Sheng1, C-W Ju, G-L Yan

  • 1Department of Cardiology, Zhongda Hospital, Medical School of Southeast University, Nanjing, China. shengzulong@126.com.

European Review for Medical and Pharmacological Sciences
|October 11, 2019
PubMed

Insights

Gene variations in hypoxia-inducible factor 1α (HIF-1α) are linked to left ventricular hypertrophy in hypertensive patients. Specific HIF-1α gene polymorphisms increase LVH risk and correlate with elevated HIF-1α plasma levels.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Hypertension Research

Background:

  • Left ventricular hypertrophy (LVH) is a significant complication of hypertension.
  • Hypoxia-inducible factor 1α (HIF-1α) plays a role in cellular responses to hypoxia and has been implicated in cardiovascular remodeling.
  • Genetic variations in HIF-1α may influence susceptibility to LVH in hypertensive individuals.

Purpose of the Study:

  • To investigate the association between single nucleotide gene polymorphisms (SNPs) in HIF-1α and the presence of LVH in hypertensive patients.
  • To identify specific HIF-1α gene variants that may confer risk for developing LVH.
  • To explore the relationship between identified polymorphisms and plasma expression levels of HIF-1α.

Main Methods:

  • A cohort of 583 hypertensive patients was recruited and categorized into groups with (LVH+) and without (LVH-) left ventricular hypertrophy.
  • Polymerase Chain Reaction restriction fragment length polymorphism (PCR-RFLP) was employed to genotype three specific SNPs in the HIF-1α gene: rs11549465, rs11549467, and rs1957757.
  • Statistical analysis was performed to compare gene frequencies between the LVH+ and LVH- groups.

Main Results:

  • Statistically significant differences in gene frequencies for rs11549465, rs11549467, and rs1957757 were observed between hypertensive patients with and without LVH (p<0.05).
  • The T allele at the rs11549465 locus and the G allele at the rs11549467 locus were found to increase the risk of LVH.
  • These risk-associated alleles correlated with elevated plasma expression levels of HIF-1α (p<0.05).

Conclusions:

  • Gene polymorphisms in HIF-1α are associated with primary hypertensive left ventricular hypertrophy.
  • The rs11549467 polymorphism in HIF-1α is specifically correlated with increased concentrations of plasma HIF-1α.
  • These findings suggest that HIF-1α genetic variations are potential contributors to the pathogenesis of LVH in hypertension.
Abstract

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