ABCA1基因R219K与血脂及子痫前期易感性的相关性研究

目的探讨福建省汉族人群三磷腺苷结合转运子A1基因（ABCA1）R219K单核苷酸多态性（SNP）和子痫前期（preeclampsia）及其血脂水平的关联性。方法研究对象621例,包括对照组316例,子痫前期病例组305例。采用聚合酶链反应一限制性片段长度多态性（PCR-RFLP）法鉴定ABCA1基因外显子区R219K单核苷酸多态性并测定血脂水平。结果 ABCA1基因R219K位点K等位基因频率和RK＋KK基因型频率在子痫前期病例组明显降低,差异有高度统计学意义P〈0.001）。子痫前期病例组内RK＋KK基因型患者血清甘油三酯（TG）浓度低于RR基因型,而HDL-C浓度刚好相反,差异有高度统计学意义（P〈0.001）。结论福建省汉族人群ABCA1基因R219K中,K等位基因可能是子痫前期的独立的保护因子,其机制可能是通过提高血液中HDL-C水平,降低TG水平,从而降低了子痫前期合并血脂代谢紊乱的风险性。

R219K of ABCA1 gene and serum lipids is associated with preeclampsia in Chinese Han population

Objective To evaluate the association between single nucleotide polymorphism （SNP） of R219K of ATP binding cassette transporter A1 （ABCA1） gene and preeclampsia or the level of serum lipids in Chinese Han population. Methods There totally 621 pregnant Han Chinese women enrolled in this study. The subjects consist of 316 controls and 305 patients with preeclampsia. The level of serum lipids was measured and SNP R219K （rs2230806） at ABCA1 gene was determined using polymerase chain reactionrestriction fragment length polymorphism （PCR - RFLP）. Results The frequency of allele K was significantly lower in patients with preeclampsia than that in the control group patients （P〈0. 05）. In terms of patients with preeclampsia, the concentration of triglyceride was significantly lower in those with genotype RK-kKK than in those with genotype RR. The situation was opposite of that in individuals with a concentration of high density lipoprotein - cholesterol （HDL - C） and Apolipo protein A1 （ApoA1） ; the difference was statistically significant （P〈0. 001）. Conclusion At locus R219K of AB- CA1 gene, allele K might as well constitute an independent factor of benefit in Chinese Han population, of which the mechanism could be reducing the risk of preeclampsia complicated with metabolic disorder of lipid through elevating HDL - C, ApoA1 and lowering TG in blood.