胆固醇7α-羟化酶基因多态性与胆固醇结石病关系的研究

Association of 7α-Hydroxylase Gene Polymorphism with Cholesterol Cholecystolithiasis

目的探讨胆固醇7α-羟化酶(CYP7A-1)基因多态性与胆固醇结石病之间的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对160例胆固醇结石患者和94例正常人进行CYP7A-1基因A-204C基因座基因型分析。结果CYP7A-1基因A-204C基因座等位基因C、A频率在胆石组和对照组分别为83.75%、16.25%和81.91%、18.09%,2组间差异无统计学意义(P>0.05)。胆石组和对照组中AA基因型个体低密度脂蛋白(LDL-C)水平较AC、CC基因型患者显著降低(P<0.05)。结论CYP7A-1基因多态性与胆固醇结石无关,但与LDL-C水平有关。

Objective To investigate the relationship between the polymorphism of 7α-hydroxylase（CYP7A1） and cholestero1 cholecystolithiasis.Methods CYP7A-1 genotyping was performed by PCR-RFLP approach in 160 cholesterol cholecystolithiasis patients and 94 control subjects.Results The frequencies of C,A allele of CYP7A1 gene were 83.75%,16.25% in cholesterol cholecystolithiasis patients and 81.91% and 18.09% in control group.There was no significant difference in frequencies of allele and genotype in A-204C polymorphism between two groups（P0.05）.In control group and cholesterol cholecystolithiasis group,LDL-C levels in AA genotypes were lower than those in CC and CA genotype（P0.05）.Conclusion The results indicate that no direct association is found between CYP7A-1 gene and cholesterol cholecystolithiasis,but there is significant correlation between the polymorphism of the CYP7A-1 gene and the levels of LDL-C.