Zhang Kelan, Zhang Sizhong, Zheng Keqin, He Yong, Zhang Li, Su Zhiguang, Sun Yan, Shi Jiajun, Kong Xiangdong, Tong Yu
Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041 P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Apr;20(2):135-7.
To examine the distribution of 3 polymorphisms of lecithin cholesterol acyltransferase gene in Chinese population and the association of these polymorphisms with lipid metabolism in patients with atherosclerotic heart disease (CHD).
Genotypes and frequencies of 3 sites were examined by PCR-restriction fragment length polymorphism technique in 209 unrelated normal control individuals and 203 CHD patients.
The observed allele frequencies conform well to Hardy-Weinberg equilibrium. The frequency of 608T allele was significantly higher in controls than that in patients (P=0.034). Compared with the CHD patients without 608T, the CHD patients with 608T exhibited a significant increase in plasma HDL-C concentration (P=0.015). 911T/C and 1188C/T polymorphisms were not found in either group.
608T polymorphism of LCAT gene was associated with higher plasma HDL-C level in CHD patients, while 911T/C and 1188C/T polymorphisms maybe very rare in Chinese population.
研究卵磷脂胆固醇酰基转移酶基因3个多态性在中国人群中的分布情况，以及这些多态性与动脉粥样硬化性心脏病（CHD）患者脂质代谢的关系。
采用聚合酶链反应-限制性片段长度多态性技术检测209名无亲缘关系的正常对照个体和203名CHD患者3个位点的基因型及频率。
观察到的等位基因频率符合Hardy-Weinberg平衡。对照组608T等位基因频率显著高于患者组（P = 0.034）。与无608T的CHD患者相比，有608T的CHD患者血浆高密度脂蛋白胆固醇（HDL-C）浓度显著升高（P = 0.015）。两组均未发现911T/C和1188C/T多态性。
LCAT基因608T多态性与CHD患者较高的血浆HDL-C水平相关，而911T/C和1188C/T多态性在中国人群中可能非常罕见。
