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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Association of genetic variants with coronary artery disease and ischemic stroke in a longitudinal population-based

Yoshiji Yamada1, Kota Matsui2, Ichiro Takeuchi2

  • 1Department of Human Functional Genomics, Life Science Research Center, Mie University, Tsu, Mie 514-8507, Japan ; Core Research for Evolutional Science and Technology, Japan Science and Technology Agency, Chiyoda-ku, Tokyo 102-0075, Japan.

Biomedical Reports
|July 3, 2015
PubMed

Insights

This study identified genetic variants in the ALPK1 and THBS2 genes, along with a locus at chromosome 3q28, as protective factors against coronary artery disease and ischemic stroke. These findings highlight shared genetic susceptibility for these cardiovascular conditions.

Area of Science:

  • Genetics
  • Cardiovascular Epidemiology
  • Genomic Association Studies

Background:

  • Previous research identified nine genes and chromosomal region 3q28 as susceptibility loci for myocardial infarction, ischemic stroke, or chronic kidney disease.
  • Coronary artery disease (CAD) and ischemic stroke may share common genetic factors, necessitating investigation into shared susceptibility variants.

Purpose of the Study:

  • To examine the association of 13 polymorphisms at 10 previously identified loci with the prevalence of CAD and ischemic stroke.
  • To identify specific genetic variants that confer susceptibility to both CAD and ischemic stroke.

Main Methods:

  • Recruitment of 170 CAD patients, 117 ischemic stroke patients, and 5,718 controls for the Inabe Health and Longevity Study.
  • Longitudinal analysis using generalized estimating equations, adjusting for demographic and clinical factors.
  • Analysis of 13 polymorphisms across 10 genetic loci, including ALPK1, THBS2, and chromosome 3q28.

Main Results:

  • The polymorphisms rs2074380 and rs2074381 in the ALPK1 gene and rs8089 in the THBS2 gene were significantly associated with CAD prevalence, with specific genotypes showing a protective effect.
  • Polymorphisms rs9846911 (chromosome 3q28), rs2074381 (ALPK1), rs8089 (THBS2), and rs6046 (coagulation factor VII) were significantly associated with ischemic stroke prevalence, with specific genotypes conferring protection.
  • Identified shared genetic loci (ALPK1, THBS2) associated with both CAD and ischemic stroke.

Conclusions:

  • ALPK1 and THBS2 genes may represent susceptibility loci for both coronary artery disease and ischemic stroke.
  • Specific genetic variants identified offer protective effects against these cardiovascular conditions.
  • These findings contribute to understanding the shared genetic architecture of CAD and ischemic stroke.

Keywords:
coronary artery diseasegeneticsischemic strokelongitudinal studypolymorphism

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