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Cholesterol-related gene variants are associated with diabetes in coronary artery disease patients

Aybike Sena Ozuynuk1,2, Aycan Fahri Erkan3, Berkay Ekici3

  • 1Department of Genetics, Istanbul University, Aziz Sancar Institute for Experimental Medicine, Sehremini, Istanbul, 34080, Turkey.

Molecular Biology Reports
|May 22, 2021
PubMed

Insights

Genetic variations in cholesterol metabolism genes like APOD, LIPA, and LDLR are linked to type 2 diabetes (T2DM) and cardiovascular disease (CAD) risk. These gene polymorphisms influence lipid levels and disease presence, particularly in males and females stratified by CAD status.

Area of Science:

  • Cardiovascular Genetics
  • Metabolic Disorders
  • Molecular Biology

Background:

  • Coronary artery disease (CAD) is a leading global cause of mortality, with prevalence varying across ethnic groups, suggesting a genetic component.
  • Understanding the genetic underpinnings of CAD and its comorbidities, such as type 2 diabetes (T2DM), is crucial for developing targeted prevention strategies.

Purpose of the Study:

  • To investigate the association between specific cholesterol metabolism gene polymorphisms and the presence of CAD.
  • To evaluate the influence of these polymorphisms on biochemical parameters and T2DM risk in relation to CAD status and sex.

Main Methods:

  • Genotyping of 493 individuals for APOC1, APOD, LIPA, SORL1, and LDLR polymorphisms using Real-Time PCR.
  • Categorization of participants into normal coronary arteries (≤30% stenosis) and critical CAD (≥50% stenosis) groups.
  • Statistical analysis including logistic regression, adjusted for confounders, and stratification by sex, CAD, and T2DM status.

Main Results:

  • APOD polymorphism minor allele associated with decreased T2DM risk in the non-CAD group.
  • LDLR rs5930 polymorphism linked to T2DM presence in males with CAD (OR=0.502, p=0.042).
  • APOD and LIPA polymorphisms affected serum lipid levels in non-CAD T2DM patients; APOC1 associated with triglyceride levels in males; LDLR minor allele carriers (females) showed elevated HbA1c and glucose levels.

Conclusions:

  • Cholesterol metabolism gene polymorphisms are associated with T2DM and specific biochemical parameters.
  • The influence of these polymorphisms is often stratified by sex, CAD status, and T2DM presence.
  • Genetic factors related to cholesterol metabolism play a role in the complex interplay between CAD and T2DM.

Keywords:
CholesterolCoronary artery diseaseDiabetes mellitusPolymorphism

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