Association of the smoothelin (SMTN) gene with cerebral infarction in men: A haplotype-based case–control study

Abstract

Smoothelin is a specific type of cytoskeletal protein found in smooth muscle cells (SMCs). Several previous research studies have examined the relationship between smoothelin and atherosclerotic plaque. The aim of the present study was to further assess the association between the human SMTN gene and cerebral infarction (CI) using a haplotypebased case-control study. A total of 168 CI patients and 259 supercontrols were genotyped for the five single-nucleotide polymorphisms (SNPs) used as genetic markers for the human SMTN gene (rs2074738, rs5997872, rs56095120, rs9621187 and rs10304). Data were analyzed for three separate groups that included total subjects, men and women. The genotypic distribution of rs10304 for men showed a significant difference between the control and CI groups. In addition, the frequency of the C-T-T-A haplotype (established by rs5997872, rs56095120, rs9621187 and rs10304) was significantly higher in the CI versus the control group (p = 0.013), while the frequency of the C-A-T-G haplotype (established by rs5997872, rs56095120, rs9621187 and rs10304) in the CI group was significantly lower than that seen in the controls (p = 0.021). In conclusion, we confirmed that the haplotype constructed using rs5997872, rs56095120, rs9621187 and rs10304 was a useful genetic marker of CI in Japanese men.

Identification of Filamin A Mechanobinding Partner I: Smoothelin Specifically Interacts with the Filamin A Mechanosensitive Domain 21

“…A loss of expression of both SMTN A and SMTN B in mice is lethal at a young age, and an SMTN B deficiency results in a decreased contractile potential of SMCs, hypertension and cardiac hypertrophy. , In humans, the SMTN gene is associated with essential hypertension, cerebral infarction, and myocardial infarction. − A loss of SMTN B results in the disappearance of the contractile VSMC phenotype in a variety of vascular disorders . Although SMTN has been used as a marker for the highly differentiated SMC, and SMTN expression is useful in studying vascular malformation and injury, its function has not been well studied, presumably due to the difficulty to prepare soluble material for biochemical analysis .…”

Novel Contributions of the Smoothelin‐like 1 Protein in Vascular Smooth Muscle Contraction and its Potential Involvement in Myogenic Tone

“…In this regard, the SmtnB specific knockout mouse has been used to demonstrate a role for the vascular form of SMTN in the development of hypertension. More recently, genetic association studies with human patient populations have found a link between SmtnB haplotypes and essential hypertension , cerebral infarct and myocardial infarct .…”