ABCB1基因C1236T多态性与血脂异常相关性研究

Association between dyslipidemia and C1236T polymorphismsin ABCB1 gene

目的研究ATP结合盒转运蛋白B1(ABCB1)基因C1236T多态性在皖南地区汉族自然人群中的频率分布及与血脂异常者各项血脂指标的相关性。方法根据血清总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C)4项指标入选197例血脂异常患者和26例血脂正常受试者,采用PCRRFLP方法检测所有入选对象ABCB1基因C1236T位点的基因多态性,进行基因分型,比较血脂异常和血脂正常者的各基因型频率分布。对于具有血清总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C)、载脂蛋白AI(apo AI)、载脂蛋白B(apo B)、脂蛋白(a)[LP(a)]完整7项血脂指标的177例血脂异常患者,比较各基因型之间各项血脂指标的差异。结果 ABCB1基因C1236T位点在皖南地区汉族人群有CC、CT、TT三种基因型,血脂异常人群3种基因型例数分别为21、78、98,血脂正常人群3种基因型例数分别为8、8、10。ABCB1基因C1236T位点基因型在血脂异常和血脂正常人群中分布不同(χ2=8.206,P=0.017)。具有完整7项血脂指标的血脂异常患者各基因型间各项血脂指标差异无统计学意义(P>0.05)。结论 ABCB1基因C1236T多态性在皖南地区汉族血脂异常和血脂正常人群中频率分布不同,但与血脂异常患者各项血脂指标无相关性。

Objective To investigate ABCB1 gene C1236T single nucleotide polymorphisms（SNP） distribution frequencies of Han population in Southern Anhui province and its correlation with lipid levels among dyslipidemia patients. Methods One hundred and ninety-seven patients with abnormal blood lipid and 26 normal controls were enrolled according to the levels of TC,TG, LDL-C and HDL-C. The polymerase chain reaction-restriction fragment length polymorphism （PCR- RFLP） was performed to analyze the SNP of C1236T in ABCB1 gene and genotype, and to compare genotyping distribution frequency between normal controls and patients with abnormal blood lipid. Moreover, the lipid levels among different genotyping were compared in177 dyslipidemia patients whose levels of TC ,TG, LDL-C, HDL-C, apo AI, apo B and LP（a） were all checked. Results CC, CT and TF polymorphisms in C1236T wereobserved in 21,78 and 98 cases of dyslipi- demia, respectively, and in 8,8 and 10 cases normal controls, respectively. The difference in the distribution of ABCB1 gene C1236T SNP between dyslipidemia patients and normal controls was significant（ X2 = 8. 206,P =0. 017）. However, there was no statistical difference in the lipid levels among the dyslipidemia patients with different genotyping（P 〉 0.05 ）. Conclusion The SNP frequency distribution of C1236T in ABCB1 gene is different, but may have no correlation with dyslipidemia of Han population in Southern Anhui province.