Hohda Shigeru, Kimura Akinori, Sasaoka Taishi, Hayashi Takeharu, Ueda Kazuo, Yasunami Michio, Okabe Masaaki, Fukuta Naoto, Kurosawa Toshiro, Izumi Tohru
Department of Internal Medicine and Cardiology, Kitasato University School of Medicine, Kanagawa, Japan.
Jpn Heart J. 2003 Sep;44(5):613-22. doi: 10.1536/jhj.44.613.
There have been many studies investigating the association between gene polymorphisms and coronary artery disease (CAD) including myocardial infarction (MI), and some studies have shown that certain gene polymorphisms are associated with CAD/MI. However, the results of the association have sometimes been controversial. The reason may be that the contribution of genetic risk factors to CAD/MI varies depending on the ethnic, environmental, and habitual backgrounds, and differs between males and females. In this study, we analyzed 17 polymorphisms in 12 candidate genes for MI in 136 patients and 200 to 235 controls, and found that there is a significant association of MI with the polymorphisms in the genes for E-selectin and CD14 receptor. To further explore the association, we investigated the C-260 T polymorphism in the promoter region of the CD14 gene in 502 MI patients and 527 control subjects. The genotype distributions of the CD14 polymorphism were as follows: patients; T/T 32.5%, C/T 48.2%, C/C 19.3%, and controls; T/T 25.4%, C/T 52.8%, C/C 21.8%. The frequencies of the T/T homozygotes were significantly higher in the patients (OR = 1.41, P = 0.013) than in the control group, confirming the association of CD14 polymorphism with MI in Japanese. Stratification analyses further demonstrated that the association was more prominent in females and in patients with a relatively low body mass index, suggesting that the contribution of the CD14-linked genetic risk to MI differs with respect to gender and habitual background.
已经有许多研究探讨基因多态性与包括心肌梗死（MI）在内的冠状动脉疾病（CAD）之间的关联，一些研究表明某些基因多态性与CAD/MI相关。然而，这种关联的结果有时存在争议。原因可能是遗传危险因素对CAD/MI的影响因种族、环境和习惯背景而异，并且在男性和女性之间也有所不同。在本研究中，我们分析了136例患者和200至235例对照中12个MI候选基因的17个多态性，发现MI与E-选择素和CD14受体基因的多态性存在显著关联。为了进一步探讨这种关联，我们在502例MI患者和527例对照受试者中研究了CD14基因启动子区域的C-260T多态性。CD14多态性的基因型分布如下：患者；T/T 32.5%，C/T 48.2%，C/C 19.3%，对照；T/T 25.4%，C/T 52.8%，C/C 21.8%。患者中T/T纯合子的频率显著高于对照组（OR = 1.41，P = 0.013），证实了CD14多态性与日本人MI的关联。分层分析进一步表明，这种关联在女性和体重指数相对较低的患者中更为突出，表明CD14相关的遗传风险对MI的影响因性别和习惯背景而异。
