A haplotype of the SMTN gene associated with myocardial infarction in Japanese women

Genet Test Mol Biomarkers. 2012 Sep;16(9):1019-26. doi: 10.1089/gtmb.2012.0034.

Abstract

Objectives: Smoothelin is a specific kind of cytoskeletal protein present in smooth muscle cells. Some researchers have shown the relationship between smoothelin and atherosclerotic plaque. The human SMTN gene encodes smoothelin-A and smoothelin-B. The aim of the present study was to assess the association between the human SMTN gene and myocardial infarction (MI) using a haplotype-based case-control study.

Methods: A total of 227 MI patients and 257 supercontrols were genotyped for five single-nucleotide polymorphisms used as genetic markers of the human smoothelin gene. Data were analyzed for three separate groups: total subjects, men, and women.

Results: For the women, the frequency of the C-T-T-G haplotype (established by rs5997872, rs56095120, rs9621187, and rs10304) was significantly higher in the MI group than in the control group (p=0.012).

Conclusions: We confirmed that the haplotype constructed using rs5997872, rs56095120, rs9621187, and rs10304 is a useful genetic marker of MI in Japanese females.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Asian People / genetics*
  • Case-Control Studies
  • Cytoskeletal Proteins / genetics*
  • Female
  • Gene Frequency
  • Genetic Markers*
  • Genetic Predisposition to Disease
  • Genotype
  • Haplotypes / genetics*
  • Humans
  • Male
  • Middle Aged
  • Muscle Proteins / genetics*
  • Myocardial Infarction / genetics*
  • Polymorphism, Single Nucleotide
  • Sex Factors

Substances

  • Cytoskeletal Proteins
  • Genetic Markers
  • Muscle Proteins
  • SMTN protein, human