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Genetic Variations of CYP19A1 Gene and Stroke Susceptibility: A Case-Control Study in the Chinese Han Population

Qing Cai1, Jianwen Zheng2, Mei Bai3,4

  • 1Department of Neurosurgery and Institute for Functional Brain Disorders, Tangdu Hospital, Fourth Military Medical University, Xi'an, People's Republic of China.

Journal of Cardiovascular Pharmacology
|January 3, 2020
PubMed

Insights

Genetic variations in CYP19A1 are linked to stroke risk in the Chinese Han population. Specific polymorphisms, rs4646 and rs17601876, were found to decrease stroke risk, with effects varying by age and gender.

Area of Science:

  • Genetics
  • Cardiovascular Disease Epidemiology
  • Pharmacogenomics

Background:

  • Stroke is a leading cause of death and disability globally.
  • The cytochrome P450 family, specifically CYP19A1 (aromatase), plays a role in various physiological processes.
  • Understanding genetic predispositions to stroke is crucial for targeted prevention strategies.

Purpose of the Study:

  • To investigate the association between genetic variations in the CYP19A1 gene and susceptibility to stroke.
  • To analyze specific CYP19A1 polymorphisms (rs4646, rs6493487, rs1062033, rs17601876, rs3751599) in relation to stroke risk.
  • To explore potential age and gender-specific effects of these genetic variations on stroke risk.

Main Methods:

  • Case-control study involving 477 stroke patients and 480 healthy controls from the Chinese Han population.
  • Genotyping of five CYP19A1 polymorphisms using the Agena MassARRAY platform.
  • Statistical analysis employing logistic regression models to assess the association between polymorphisms and stroke susceptibility, calculating odds ratios and 95% confidence intervals.

Main Results:

  • Polymorphisms rs4646 and rs17601876 were significantly associated with a decreased risk of stroke.
  • Stratification analysis revealed that rs4646 reduced stroke risk in individuals over 64 years and in women.
  • rs1062033 was associated with increased stroke risk in younger individuals (≤64 years), and a specific haplotype (A-rs17601876-G-rs3751599) increased stroke risk.

Conclusions:

  • CYP19A1 gene polymorphisms are significantly associated with stroke susceptibility in the Chinese Han population.
  • Specific genetic variations within CYP19A1 can act as protective factors or risk factors for stroke, depending on the polymorphism and demographic factors.
  • These findings highlight the potential role of CYP19A1 in stroke pathogenesis and suggest its utility in risk stratification.
Abstract

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