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Satoshi Yoshino1, Rebecca Cilluffo, Patricia J M Best

  • 1aDepartment of Cardiovascular Medicine and Hypertension, Kagoshima University Hospital, Sakuragaoka, Kagoshima, Japan bDepartment of Internal Medicine, Division of Cardiovascular Diseases cDepartment of Health Sciences Research, Division of Biomedical Statistics and Informatics dDepartment of Experimental Pathology and Laboratory Medicine, Division of Genomics Shared Resource eDepartment of Internal Medicine, Division of Nephrology, Mayo Clinic and College of Medicine, Rochester, Minnesota, USA fDepartment of Cardiology, Ajou University Medical Center, Suwon, Korea.

Coronary Artery Disease
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PubMed
Summary
This summary is machine-generated.

This study found specific genetic variations (SNPs) linked to coronary microvascular dysfunction. Certain single nucleotide polymorphisms (SNPs) in VEGFA, CDKN2B-AS1, MYH15, and NT5E genes are associated with this condition, particularly in men.

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Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetics of Microvascular Disease

Background:

  • Single nucleotide polymorphisms (SNPs) are key genetic variations.
  • Microvascular pathology contributes to cardiovascular events, but its genetic basis is unclear.
  • Identifying genetic factors for coronary microvascular dysfunction is crucial.

Purpose of the Study:

  • To identify sex-specific single nucleotide polymorphisms (SNPs) associated with coronary microvascular dysfunction.
  • To investigate the genetic underpinnings of impaired coronary microcirculation.

Main Methods:

  • Analyzed data from 643 patients undergoing cardiac catheterization and coronary microcirculatory assessment.
  • Genotyped 1529 autosomal and 7 X chromosome SNPs from 76 candidate genes.
  • Assessed coronary flow reserve (CFR) using adenosine and stratified patients by sex and CFR < 2.5.

Main Results:

  • SNPs in VEGFA and CDKN2B-AS1 were associated with abnormal CFR (P<0.005) after adjusting for age, sex, and BMI.
  • In men, SNPs within MYH15, VEGFA, and NT5E were linked to abnormal CFR.
  • No significant SNP associations with abnormal CFR were found in women.

Conclusions:

  • Genetic variations in VEGFA and CDKN2B-AS1 are linked to coronary microvascular dysfunction.
  • Sex-specific variants in MYH15, VEGFA, and NT5E increase the risk of coronary microvascular dysfunction in men.