[Interaction between APOB gene polymorphism and risk factors in coronary heart disease patients without

T Pu1, H Y Yu, M Xu

  • 1Department of Cardiology, Peking University Third Hospital and Key Laboratory of Cardiovascular Molecular Biology and Regulatory Peptides, National Health and Family Planning Commission, Key Laboratory of Molecular Cardiovascular Sciences, Ministry of Education and Beijing Key Laboratory of Cardiovascular Receptors Research, Beijing 100191, China.

Insights

The APOB gene R532W polymorphism is linked to reduced coronary heart disease (CHD) risk in individuals without lipid-lowering treatment. This genetic variation shows interactions with hypertension, smoking, and diabetes, influencing CHD occurrence.

Area of Science:

  • Genetics and Cardiovascular Disease
  • Molecular Biology
  • Population Health

Background:

  • Coronary heart disease (CHD) remains a leading cause of mortality worldwide.
  • Understanding genetic predispositions, such as APOB gene variations, is crucial for risk stratification.
  • The R532W polymorphism in the APOB gene has been investigated for its potential role in CHD susceptibility.

Purpose of the Study:

  • To examine the association between the APOB gene R532W polymorphism and CHD risk in patients not receiving lipid-lowering therapy.
  • To analyze the interaction between the R532W polymorphism and established CHD risk factors.

Main Methods:

  • Case-control study involving 771 CHD patients and 772 controls, all treatment-naïve.
  • Genotyping of the APOB R532W polymorphism using HumanExome BeadChip.
  • Statistical analysis including logistic regression to adjust for confounding factors and interaction analysis.

Main Results:

  • The R532W polymorphism was associated with reduced CHD risk, with A-allele carriers showing approximately 35% lower risk (OR=0.653, P=0.001).
  • Significant interactions were observed: positive additive interactions with hypertension and smoking, and a negative additive interaction with diabetes.
  • Total cholesterol levels were lower in AA genotype individuals compared to GA genotype in controls, but not in CHD patients.

Conclusions:

  • The APOB R532W polymorphism is associated with reduced CHD risk in the absence of lipid-lowering treatment.
  • This genetic variation interacts additively with hypertension and smoking, increasing CHD risk, but interacts negatively with diabetes.
  • Findings suggest potential for targeted genetic risk assessment in populations like the Chinese North Han.

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