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Genetic variants in CYP11B1 influence the susceptibility to coronary heart disease

Xiaoli Huang1, Yimin Cheng2, Na Wang3

  • 1The Department of Cardiovascology, Xi'an Hospital of Traditional Chinese Medicine, No. 69, Fengcheng Eighth Road, Weiyang District, Xi'an, 710021, People's Republic of China.

BMC Medical Genomics
|July 13, 2022
PubMed

Insights

Genetic variations in the CYP11B1 gene, specifically rs4534, rs6410, and rs5283, influence coronary heart disease (CHD) susceptibility. These genetic factors are linked to CHD risk, particularly in relation to age and gender.

Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Molecular Biology

Background:

  • Genetic factors are significant contributors to coronary heart disease (CHD) risk.
  • Investigating specific gene mutations, such as those in CYP11B1, is crucial for understanding CHD etiology.
  • The role of CYP11B1 gene variants in the Chinese Han population's CHD risk was previously underexplored.

Purpose of the Study:

  • To investigate the association between CYP11B1 gene mutations and the risk of developing coronary heart disease (CHD).
  • To explore whether specific CYP11B1 variants influence CHD susceptibility in the Chinese Han population.
  • To analyze the impact of these variants on associated conditions like diabetes and hypertension.

Main Methods:

  • Genotyping of six CYP11B1 variants in 509 CHD patients and 509 healthy controls using Agena MassARRAY.
  • Logistic regression analysis to assess correlations between CYP11B1 mutations and CHD risk (OR, 95% CI).
  • Haplotype analysis and multifactor dimensionality reduction (MDR) were employed.

Main Results:

  • Overall analysis showed no significant correlation between CYP11B1 polymorphisms and CHD susceptibility.
  • Stratified analysis revealed significant associations for rs5283, rs6410, and rs4534 with CHD susceptibility, dependent on age and gender (p < 0.05).
  • rs5283 and rs4534 variants were also linked to diabetes/hypertension risk in CHD patients (p < 0.05).
  • A specific haplotype (Crs4736312Ars5017238Crs5301Grs5283Trs6410Crs4534) of CYP11B1 was found to reduce CHD susceptibility (p < 0.05).

Conclusions:

  • Specific CYP11B1 gene variants (rs4534, rs6410, rs5283) are associated with coronary heart disease (CHD) susceptibility.
  • The influence of these variants on CHD risk is modulated by age and gender.
  • These findings contribute to understanding the genetic underpinnings of CHD.
Abstract

Keywords:
CYP11B1Coronary heart diseaseGenePolymorphismsSusceptibility

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