冠状动脉疾病与端粒酶逆转录酶（hTERT）的功能多态性
Coronary artery disease and a functional polymorphism of hTERT.
作者信息
Matsubara Yumiko, Murata Mitsuru, Watanabe Kiyoaki, Saito Ikuo, Miyaki Koichi, Omae Kazuyuki, Ishikawa Mie, Matsushita Kenichi, Iwanaga Shiro, Ogawa Satoshi, Ikeda Yasuo
机构信息
Department of Internal Medicine, School of Medicine, Keio University, Tokyo, Japan.
出版信息
Biochem Biophys Res Commun. 2006 Sep 22;348(2):669-72. doi: 10.1016/j.bbrc.2006.07.103. Epub 2006 Jul 28.
Genetic variation, a -1327T/C polymorphism, of human telomerase reverse transcriptase (hTERT) is associated with leukocyte telomere length in healthy subjects, but clinical significances of this functional polymorphism are not clear. Recently, the relationship between the telomere system and coronary artery disease (CAD) was reported. We investigated the association between the -1327T/C polymorphism and (a) susceptibility to CAD and (b) telomere length in CAD patients. In a case-control study, 104 patients confirmed by coronary angiography and 115 age- and sex-matched controls were enrolled. There was a higher frequency of the -1327C/C genotype in CAD patients (51.9%) compared with controls (36.5%, p = 0.0218). Among the 104 CAD patients, leukocyte telomere length in the -1327C/C genotype (7.62+/-2.19 kb, mean+/-SD) was shorter than that in the -1327T/C and -1327T/T genotypes (8.74+/-2.92, p = 0.0287). These findings suggest that the -1327C/C genotype is a genetic risk factor for CAD and relates to shorter telomere length among CAD patients.
人类端粒酶逆转录酶（hTERT）的基因变异，即 -1327T/C多态性，与健康受试者的白细胞端粒长度相关，但这种功能多态性的临床意义尚不清楚。最近，有报道称端粒系统与冠状动脉疾病（CAD）之间存在关联。我们研究了 -1327T/C多态性与（a）CAD易感性以及（b）CAD患者端粒长度之间的关联。在一项病例对照研究中，纳入了104例经冠状动脉造影确诊的患者以及115例年龄和性别匹配的对照。与对照组（36.5%，p = 0.0218）相比——CAD患者中 -1327C/C基因型的频率更高（51.9%）。在104例CAD患者中，-1327C/C基因型的白细胞端粒长度（7.62±2.19 kb，平均值±标准差）短于 -1327T/C和 -1327T/T基因型（8.74±2.92，p = 0.0287）。这些发现表明，-1327C/C基因型是CAD的遗传危险因素，并且与CAD患者较短的端粒长度有关。
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