title: Haplotype of smoothelin gene associated with essential hypertension.
abstract: Smoothelin is a specific cytoskeletal protein that is associated with smooth muscle cells. The human SMTN gene encodes smoothelin-A and smoothelin-B, and studies using SMTN gene knockout mice have demonstrated that these animals develop hypertension. The aim of the present study was to investigate the association between the human SMTN gene and essential hypertension (EH) using a haplotype-based case-control study. This is the first study to assess the association between essential hypertension and this gene. A total of 255 EH patients and 225 controls were genotyped for the five single-nucleotide polymorphisms (rs2074738, rs5997872, rs56095120, rs9621187 and rs10304) used as genetic markers for the human SMTN gene. Data were analyzed for three separate groups: total subjects, men and women. Although there were no differences for genotype distributions, or the dominant and recessive model distributions noted for total subjects, men and women for all of the SNPs selected for the present study, for the total subjects group, the frequency of the G-C-A-C haplotype constructed with rs2074738-rs5997872-rs56095120-rs9621187 was significantly lower in the essential hypertension patients than in the controls (P = 0.002). The G-C-A-C haplotype appears to be a useful protective marker of essential hypertension in Japanese, and the SMTN gene might also be a genetic marker for essential hypertension.
authors.affiliation: Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, JP-173-8610 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: Yitong
authors.initials: Y
authors.lastname: Ma
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D003598:Cytoskeletal Proteins; D005819:Genetic Markers; D009124:Muscle Proteins; C100762:SMTN protein, human