血液透析患者低密度脂蛋白受体相关蛋白5＇端四核苷酸重复序列基因多态性与血脂水平检测

The detection of the gene polymorphism of low density lipoprotein receptor related protein tetranucleotide and serum lipid level in hemodialysis patients

目的 探讨血液透析患者脂代谢紊乱的临床特征及低密度脂蛋白受体相关蛋白（LRp）5＇端四核苷酸重复序列基因多态性对脂代谢的影响.方法 比较血液透析组患者（112例）与对照组（372例）血清TC、TG、HDL-C、低密度脂蛋白胆固醇（LDL-C）、载脂蛋白（Apo）A1、ApoB、ApoE及脂蛋白（Lp）（a）水平,聚合酶链反应-限制性片断长度方法检测LRP5＇端四核苷酸重复序列基因多态性.结果 血液透析组脂代谢紊乱主要表现为血清TG水平显著增高,HDL-C水平显著降低.血清TG水平高于正常者为37例（33.0%）,HDL-C低于正常者为12例（10.7%）.血液透析组高血压的发生率为73.6%（78/106）,心血管疾病为25.0%（26/104）.伴心血管疾病患者TG水平显著高于无心血管疾病患者,伴高血压患者与无高血压患者血脂水平差异无统计学意义.基因多态性分析显示,LRP 5＇端四核苷酸重复序列基因型91/91、91/87与等位基因91 bp频率较高,2组间差异无统计学意义.血液透析组LRP5＇端四核苷酸重复序列不同基因型间血脂水平差异无统计学意义.结论 TG水平与血清白蛋白水平、透析时体外循环血流量显著相关;HDL-C与尿素清除指数显著相关.LRP5＇端四核苷酸重复序列基因多态性对血液透析患者血脂水平无显著影响.

Objective To investigate characteristics of dislipidemia and the effect of gene polymorphism of low density lipoprotein receptor related protein （LRP） tetranucleotide on hemodialysis patients. Methods Serum total cholesterol （TC）,triglyceride （TG）,low density lipoprotein cholesterol （LDLC）,high density lipoprotein cholesterol （HDLC）,apolipoproteins （Apo A1,B,E） and lipoprotein（a） [Lp（a）] were measured;polymerase chain reaction-restriction fragment length polymophism （PCR-RFLP） was used to detect LRP gene polymorphism in hemodialysis patients. Results Serum levels of TG and ApoB were significantly higher in the hemodialysis patients than those in contrals,and the levels of TC,LDLC,HDLC were lower compare to those in contrals. Patients with cardiovascular disease had higher TG level comparing to the patients without cardiovascular disease. The data of LRP polymorphism detected by PCR-RFLP showed that the allele frequency and the distribution of the LRP genotype of tetranucleotide reapeat sequence did not differ significantly between controls and hemodialysis patients. There was no statistic difference of serum lipid levels among hemodialysis patients with different genotype of LRP tetranucleotide.Conclusions Hemodialysis patients can develop hypertrglyeridemia and hypocholesteroldemia. TG level might be related to the development of cardiovascular disease in hemodialysis patients. The gene polymorphisms of LRP tetranucleotide dose not affect the lipid levels significantly in hemodialysis patients.