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Sequence Variants of SIRT6 Gene Promoter in Myocardial Infarction

Lekun Wang1, Ling Ma2, Shuchao Pang3

  • 11 College of Clinical Medicine, Jining Medical University , Jining, China .

Genetic Testing and Molecular Biomarkers
|February 18, 2016
PubMed

Insights

Genetic variants in the SIRT6 gene promoter were identified in myocardial infarction (MI) patients. These DNA sequence variants may increase MI risk by altering SIRT6 gene expression and function.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Disease Pathogenesis

Background:

  • Coronary artery disease (CAD), a complex atherosclerosis-driven condition, remains a leading cause of mortality.
  • While numerous genetic loci are linked to CAD, they explain only a fraction of cases, suggesting the role of low-frequency or rare variants.
  • SIRT6, a deacetylase involved in cardiovascular health, inflammation, and metabolism, is a potential candidate gene for CAD susceptibility.

Purpose of the Study:

  • To investigate the association between genetic variants in the SIRT6 gene promoter and the risk of myocardial infarction (MI).
  • To identify novel DNA sequence variants (DSVs) and single-nucleotide polymorphisms (SNPs) within the SIRT6 promoter region in MI patients.

Main Methods:

  • Genetic analysis of SIRT6 promoter regions in a cohort of 371 MI patients and 383 ethnically-matched controls.
  • Identification and characterization of DNA sequence variants (DSVs) and single-nucleotide polymorphisms (SNPs).

Main Results:

  • Fifteen DSVs, including seven SNPs, were identified in the SIRT6 promoter.
  • Two novel heterozygous DSVs (g.4183823G>C and g.4183742G>A) were exclusively found in MI patients.
  • Two specific SNPs (rs4359565 and rs3760905) showed significantly higher frequencies in MI patients compared to controls.

Conclusions:

  • The identified DSVs in the SIRT6 promoter may impact its transcriptional activity.
  • Altered SIRT6 expression due to these variants could potentially contribute to the development of MI.
  • SIRT6 promoter variants represent a potential genetic risk factor for myocardial infarction.
Abstract

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