中国血液净化

›› 2003, Vol. 2 ›› Issue (11): 594-597.

• 论著 • 上一篇    下一篇

血液透析患者低密度脂蛋白受体TaqI位点基因多态性与血脂水平检测

林宇静 王玉新 邹和群   

  1. 519000 珠海，中山大学附属第五医院
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2003-11-19 发布日期:2003-11-19

  • Received:1900-01-01 Revised:1900-01-01 Online:2003-11-19 Published:2003-11-19

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摘要：

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（LDLR）基因多态性 对脂代谢的影响。方法 生化方法检测血液透析血清总胆固醇（TC）、甘油三酯（TG）、高密度脂蛋白胆固醇（HDLC）、低密度脂蛋白胆固醇（LDLC）、载脂蛋白（Apo A1、ApoB、ApoE)及脂蛋白［Lp（a）］水平，多聚合酶链反应－限制性片断长度(PCR-RFLP)方法检测LDLR内含子4 TaqⅠ位点基因多态性。结果 血液透析患者脂代谢紊乱主要表现为血清TG水平显著增高，HDLC水平显著降低。33%的患者血清TG水平高于正常水平，10.4％的患者HDLC低于正常水平。偏相关回归分析显示，TG水平与血清ALB水平、透析时体外循环血流量显著相关；HDLC与KT/V显著相关。血液透析患者高血压的发生率为73.6%，心血管疾病为25%。伴心血管疾病组TG水平显著高于无心血管疾病组，伴高血压组与无高血压组血脂水平无显著差异。 LDLR基因多态性检测结果显示，血液透析组与对照组间 LDLR内含子4 TaqⅠ位点基因型与等位基因分布频率无显著差异。LDLR基因多态性对血脂水平的影响表现为LDLR内含子4 TaqⅠ位点基因型-/-的血液透析患者甘油三酯水平较高。结论 血液透析患者脂代谢紊乱主要表现为血清TG、ApoB水平显著增高，HDLC等指标显著降低。伴心血管并发症的患者TG水平显著高于无并发症的患者。TG水平与血清ALB水平、透析时体外循环血流量显著相关；HDLC与KT/V显著相关。LDLR内含子4 TaqⅠ位点基因型-/-血液透析患者易发生血清甘油三酯水平增高。

关键词: 血液透析, 脂, 低密度脂蛋白受体, 基因多态性

Abstract:

Objective To investigate characteristics of dislipidemia and the effect of low density lipoprotein receptor (LDLR) Taq I gene polymorphism in hemodialysis patients. Methods Serum total cholesterol (TC), triglyceride (TG), low density lipoprotein (LDL), high density lipoprotein cholesterol (HDLC), apolipoproteins (Apo A1, B, E) and lipoprotein(a) ［Lp(a)］ were measured, and polymerase chain reaction-restriction fragment length polymophism (PCR-RFLP) was used to detect Taq I gene polymorphism of LDLR intron 4 in hemodialysis patients. Results Serum levels of TG and ApoB were higher significantly in the hemodialysis patients than in controls, and the levels of TC, LDLC, HDLC were lower compared with those in controls. Patients with cardiovascular diseases had higher TG level compared with the patients without. The allele frequency and the distribution of the LDLR intron 4 TaqⅠgenotypes did not differ significantly with the controls and the hemodialysis patients. The serum TG level was significantly higher in hemodialysis patients with the genotype TaqⅠ-/- compared with patients with other genotypes in LDLR intron 4. Conclusion Hemodialysis patients were liable to develop hypertriglyceridemia and hypocholesterolemia which might be one of the causes of cardiovascular disease. Patients with the genotype TaqⅠ-/- in LDLR intron 4 were liable to develop dislipidemia.

Key words: Lipid, Low density lipoprotein receptor, Gene polymorphism