title: 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 haplotype-based 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.
authors.affiliation: Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan.
authors.forename: Jie
authors.initials: J
authors.lastname: Jiang
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Nakayama
authors.forename: Masanori
authors.initials: M
authors.lastname: Shimodaira
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Sato
authors.forename: Noriko
authors.initials: N
authors.lastname: Aoi
authors.forename: Mikano
authors.initials: M
authors.lastname: Sato
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Izumi
authors.forename: Yuji
authors.initials: Y
authors.lastname: Kasamaki
authors.forename: Masakatsu
authors.initials: M
authors.lastname: Ohta
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Soma
authors.forename: Koichi
authors.initials: K
authors.lastname: Matsumoto
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kawamura
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ozawa
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Hinohara
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Doba
authors.forename: Yitong
authors.initials: Y
authors.lastname: Ma
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002544:Cerebral Infarction / Q000208:ethnology / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007564:Japan; D015810:Linkage Disequilibrium; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D018570:Risk Assessment; D012307:Risk Factors; D012737:Sex Factors
chemical_list: D003598:Cytoskeletal Proteins; D005819:Genetic Markers; D009124:Muscle Proteins; C100762:SMTN protein, human