卵磷脂胆固醇酰基转移酶基因单核苷酸多态性与冠心病脂代谢易感性的关联研究

目的：检测卵磷脂胆固醇酰基转移酶（lecithin cholesterol acyltransferase,LCAT）基因3个编码区单核苷酸多态位点在中国人群中的分布频率，并初步探讨它们与脂代谢和冠状动脉粥样硬化性心脏病（coronary atherosclerotic heart disease,CHD）易感性的关系。方法：采用聚合酶链反应－限制性片段长度多态性方法，分析209名正常人和203例CHD患者中608C／T、911T／C和1188C／T（参照序列：NM_000229）3个位点的多态性。结果：608C和608T等位基因频率分布符合Hardy-Weinberg平衡。CHD患者组608T频率显著低于正常人群（P＝0．034）。与无608T CHD患者相比，具有608T的CHD患者的血浆高密度脂蛋白胆固醇显著升高（P＝0．015）。911T／C和1188C/T在两组中均未检出。结论：LCAT基因608T等位基因与CHD患者较高的血浆高密度脂蛋白胆固醇水平相关联，可能与中国人CHD相关。911T／C和1188C／T在中国人群中非常罕见。

Study on the association of lecithin cholesterol acyltransferase gene polymorphisms with the lipid metabolism in coronary atherosclerotic heart disease

Objective 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). Methods 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. Results 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. Conclusion 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.