HMG-CoA还原酶ScrFI基因多态性对高胆固醇血症和AI的影响:一个中老年人群的横断面研究

The impact of HMG CoA reductase ScrFI gene polymorphism on hypercholesterolemia and AI:a cross-sectional study of a middle-aged and elderly population

目的:探讨3-羟基-3-甲基戊二酸单酰辅酶A还原酶(HMG-CoA还原酶)的基因多态性对高胆固醇血症和动脉粥样硬化指数(AI)的影响。方法:检测南京市常住汉族174名中老年人血总胆固醇、高密度脂蛋白胆固醇(HDL-C)和低密度脂蛋白胆固醇(LDL-C),计算AI;使用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)技术检测HMG-CoA还原酶ScrFI基因多态性。结果:高胆固醇血症患者87例(高胆固醇组),男21例,女性66,平均年龄(63.59±8.37)岁;胆固醇正常87例(正常组),男21例,女66例,平均年龄(62.92±7.60)岁。高胆固醇组AA基因型频率为25.10%,Aa基因型频率为55.31%,aa基因型频率为19.59%;正常组AA基因型频率为18.39%,Aa基因型频率为52.87%,aa基因型频率为28.74%;高胆固醇组的a等位基因频率为55.17%,高于正常组的47.13%,但差异无统计学意义(P>0.05),AA基因型人群的血HDL-C水平显著高于Aa和aa基因型人群(P<0.05);胆固醇正常组AA基因型人群的AI显著低于aa型基因人群(P<0.05);两组人群的AI随突变型杂合子和突变型纯合子的发生逐渐升高,但差异无统计学意义(P>0.05)。结论:HMG-CoA还原酶ScrFI基因多态性可能是高胆固醇血症发生的遗传易感因素之一;HMG-CoA还原酶ScrFI基因突变可能会影响HMG-COA还原酶的活性,降低对胆固醇的抑制作用,增加总胆固醇和LDL-C的合成,较暴露于同样环境中的基因非突变型人群发生高胆固醇血症和动脉粥样硬化的风险可能会增高。

Objective:To explore the effect of 3-hydroxy-3-methyl glutaryl coenzyme A reductase(HMG CoA reductase)gene polymorphism on hypercholesterolemia and atherosclerosis index(AI).Methods:The total cholesterol,high density lipoprotein cholesterol(HDL-C)and low density lipoprotein cholesterol(LDL-C)profiles in blood of 174 middle-aged and old people of Han nationality living in Nanjing were detected,and the AI was calculated.Polymerase chain reaction-restriction endonuclease fragment length polymorphism(PCR-RFLP)technology was used to detect the polymorphism of HMG-CoA reductase ScrFI gene.Results:There were 87 patients with hypercholesterolemia(high cholesterol group),including 21 males and 66 females,with an average age of(63.59±8.37)years;There were 87 cases with normal cholesterol level(normal group),including 21 males and 66 females,with an average age of(62.92±7.60)years.In the high cholesterol group,the frequency of AA genotype was 25.10%,the frequency of Aa genotype was 55.31%,and the frequency of aa genotype was 19.59%;In the normal group,the frequency of AA genotype was 18.39%,the frequency of Aa genotype was 52.87%,and the frequency of aa genotype was 28.74%.The frequency of a allele in high cholesterol group was 55.17%,higher than 47.13%in normal group,the difference was not statistically significant(P>0.05).The level of blood HDL-C in AA genome population was significantly higher than that in Aa and aa genotype population(P<0.05).The AI of AA gene population in normal cholesterol group was significantly lower than that of aa gene population(P<0.05).The AI of the two groups gradually increased with the occurrence of mutant heterozygotes and mutant homozygotes,the difference was not statistically significant(P>0.05).Conclusion:The polymorphism of HMG-CoA reductase ScrFI gene may be one of the genetic predisposing factors of hypercholesterolemia.HMG-CoA reductase ScrFI gene mutation may affect the activity of HMG-CoA reductase,reduce the inhibition of cholesterol,and increase the synthesis of TC and LDL-C,exposed to the same environment as the non-mutant population,the risk of hypercholesterolemia and atherosclerosis may be increased.