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

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.