Mitochondrial 5178A/C genotype is associated with acute myocardial infarction
Mitochondrial 5178A/C genotype is associated with acute myocardial infarction
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DOI：
10.1253/circj.67.16
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发表时间：
2003-01-01
影响因子：
3.3
通讯作者：
Katagiri, T
中科院分区：
文献类型：
--
作者：
Mukae, S;Aoki, S;Katagiri, T
线粒体5178 A/C的单核苷酸多态性导致NADH脱氢酶亚基内的Met到Leu的替换，据报道与长寿相关。本研究的目的是评估线粒体多态性，特别是5178 A/C基因型，对日本研究人群急性心肌梗死（AMI）的易感性的贡献。分为4组：AMI患者150例，原发性高血压患者150例，糖尿病患者100例，年龄、性别相匹配的对照组150例。用聚合酶链反应-限制性片段长度多态性方法检测线粒体5178 A/C。AMI组5178 C等位基因频率显著高于对照组，且这种差异在年轻患者中更为显著。原发性高血压组、糖尿病组和对照组之间等位基因频率存在差异，但AMI组C等位基因频率高于原发性高血压组和糖尿病组。这种特殊的多态性被发现与AMI的发生有关，特别是在年轻患者中，并构成了AMI的新的危险因素。
A single nucleotide polymorphism of mitochondrial 5178A/C, causing a Met to Leu replacement within the NADH dehydrogenase subunit, is reported to be associated with longevity. The purpose of the present study was to assess the contribution of mitochondrial polymorphisms, particularly the 5178A/C genotype, to the susceptibility to acute myocardial infarction (AMI) in a Japanese study population. There were 4 groups: 150 patients with AMI, 150 with essential hypertension, 100 with diabetes mellitus, and 150 subjects matched for age and sex who served as the control group. Mitochondrial 5178A/C was detected by the polymerase chain reaction restriction fragment length polymorphism method. The allelic frequency of 5178C was significantly higher in the AMI group than in the control group, and this difference was more marked in younger patients. There were differences in allelic frequencies among the essential hypertension group, diabetes mellitus group and control group, but a higher frequency of the C allele was seen in the AMI group compared with the essential hypertension and diabetes mellitus groups. This particular polymorphism was found to be associated with development of AMI, especially in younger patients and constitutes a new risk factor for AMI.