胆固醇7α-羟化酶基因-204A／C多态性与内源性高甘油三酯血症关联的研究

Association between cholesterol 7α-hydrox34ase - 204A/C gene polymorphism and endogenous hypertriglyc-eridemia in Chinese

目的探讨成都地区内源性高甘油三酯血症（hypertriglyceridemia，HTG）患者胆固醇7α-羟化酶（cholesterol 7α-hydroxylase，CYP7A1）基因一204A／C多态性与血脂及载脂蛋白的关系。方法应用聚合酶链反应-限制性片段长度多态性技术检测212名正常对照者和132例内源性HTG患者CYP7A1-204A／C基因多态性。酶法测定血清甘油三酯（triglyceride，TG）、总胆固醇（total cholesterol，TC）及高密度脂蛋白胆固醇（high density lipoprotein cholesterol，HDL-C），用本校载脂蛋白研究室研制的RID试剂盒测定血清apoAI、A1I、B100、CH、C111及E。结果CYP7A1—204A／C多态位点等位基因A、C频率在HTG组和正常对照组分别为0．602、0．398和0．601、0．399。等位基因频率和基因型频率分布均符合Hardv—Weinberg平衡定律。CYP7A1—204A／C多态性基因型频率，等位基因A、c频率在HTG组和正常对照组间比较差异无统计学意义（P〉0．05）。HTG组CC、AC基因型患者血清TG和apoCⅢ水平较从基因型患者显著增高（P〈0．05）。血清HDL-C水平在正常对照组中CC、AC基因型者较AA基因型者显著降低（P〈0．05），正常对照组中男性CC、AC基因型者血清TG水平较从基因型者显著增高（P〈0．05）。结论CYP7A1基因-204A／C多态性与HTG无关联，但HTG患者CYP7A1基因-204A／C多态性与血清TG和apoCⅢ水平密切相关。CYP7A1基因-204A／C多态性在正常对照组中与血清HDL-C水平密切相关，在正常男性人群中与血清TG水平增高密切相关。

Objective To investigate the cholesterol 7α-hydroxylase gene - 204A/C polymorphism and its relationship with serum lipids and apolipoproteins （apo） levels in patients with endogenous hypertriglycefidemia （HTG） in Chinese population in Chengdu area. Methods The genotype and allele frequencies of cholesterol 7α-hydroxylase gene -204A/C polymorphism were analyzed by polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP）. Serum lipids were measured by enzymatic kits and apolipoproteins AI , All , B100, CⅡ , CⅢ and E were measured by the RID kits in 132 HTG patients and 212 control subjects. Results Allele frequencies of A and C were 0.602 and 0.398 in HTG group and 0.601 and 0.399 in control group, respectively. There was no significant difference of allele and genotypes frequencies between HTG and control groups （ P 〉 0.05）. In HTG group, carriers with the genotypes CC and AC were associated with signiticandy higher concentrations of triglycerides and apoC m compared with those with genotype AA （P 〈 0.05）. In the control group, carriers with the genotypes CC and AC were associated with significantly lower serum high density lipoprotein cholesterol （HDL-C） level compared with those with genotype AA （ P 〈 0.05）. In the male control group, carriers with the genotypes CC and AC had elevated levels of senma triglycerides than those with genotype AA （ P 〈 0.05）. Conclusion These results suggest that - 204A/C polymorphism in the CYPA1 gene does not relate with HTG but may has an effect on serum triglycefide and apoC Ⅲ levels in patients with endogenous HTG, the serum HDL-C level in control subjects and the serum TG level in male control subjects.