Jiang Jie, Nakayama Tomohiro, Shimodaira Masanori, Sato Naoyuki, Aoi Noriko, Sato Mikano, Izumi Yoichi, Kasamaki Yuji, Ohta Masakatsu, Soma Masayoshi, Matsumoto Koichi, Kawamura Hiroshi, Ozawa Yukio, Ma Yitong
Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan.
Genet Test Mol Biomarkers. 2012 Sep;16(9):1019-26. doi: 10.1089/gtmb.2012.0034.
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.
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.
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).
We confirmed that the haplotype constructed using rs5997872, rs56095120, rs9621187, and rs10304 is a useful genetic marker of MI in Japanese females.
平滑肌肌动蛋白是一种存在于平滑肌细胞中的特定细胞骨架蛋白。一些研究人员已揭示了平滑肌肌动蛋白与动脉粥样硬化斑块之间的关系。人类SMTN基因编码平滑肌肌动蛋白-A和平滑肌肌动蛋白-B。本研究的目的是通过基于单倍型的病例对照研究评估人类SMTN基因与心肌梗死（MI）之间的关联。
对总共227例心肌梗死患者和257例超级对照者进行基因分型，检测用作人类平滑肌肌动蛋白基因遗传标记的5个单核苷酸多态性。对三个独立的组进行数据分析：全体受试者、男性和女性。
对于女性而言，MI组中C-T-T-G单倍型（由rs5997872、rs56095120、rs9621187和rs10304确定）的频率显著高于对照组（p = 0.012）。
我们证实，使用rs5997872、rs56095120、rs9621187和rs10304构建的单倍型是日本女性心肌梗死的一种有用的遗传标记。
