>
网站首页期刊介绍通知公告编 委 会投稿须知电子期刊广告合作联系我们
最新消息:
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
作者:刘文  张红  翟成凯 
单位:东南大学 公共卫生学院, 江苏 南京 210009
关键词:3-羟基-3-甲基戊二酸单酰辅酶A还原酶 ScrFI基因型 动脉粥样硬化指数 高胆固醇血症 中老年人群 
分类号:R153.3
出版年·卷·期(页码):2024·43·第二期(191-196)
摘要:

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.

参考文献:

[1] 诸骏仁,高润霖,赵水平,等.中国成人血脂异常防治指南(2016年修订版)[J].中国循环杂志,2016,31(10):937-953.
[2] CHEN H J,CHEN Y R,WU W Q,et al.Prolonged hyperlipidemia exposure increases the risk of arterial stiffness in young adults:a cross-sectional study in a cohort of Chinese[J].BMC Public Health,2020,20(1):1091.
[3] ZHU Y,XIAN X,WANG Z,et al.Research progress on the relationship between atherosclerosis and inflammation[J].Biomolecules,2018,8(3):80.
[4] PRABHAKARAN D,JEEMON P,ROY A.Cardiovascular diseases in india:current epidemiology and future directions[J].Circulation,2016,133(16):1605-1620.
[5] PYAKUREL P,KARKI P,LAMSAL M,et al.Cardiovascular risk factors among industrial workers:across-sectional study from eastern Nepal[J].J Occup Med Toxicol,2016,11:25.
[6] GESTO D S,PEREIRA C M S,CERQUEIRA N M F S,et al.An atomic-level perspective of HMG-CoA-reductase:The target enzyme to treat hypercholesterolemia[J].Molecules,2020,25(17):3891.
[7] SCHUMACHER M M,DEBOSE-BOYD R A.Posttranslational regulation of HMG CoA reductase,the rate-limiting enzyme in synthesis of cholesterol[J].Annu Rev Biochem,2021,90:659-679.
[8] GUNASEKARAN B,SHUKOR M Y.HMG-CoA Reductase as Target for Drug Development[J].Methods Mol Biol,2020,2089:245-250.
[9] FERNANDEZ-MACIAS J C,OCHOA-MARTINEZ A C,VARELA-SILVA J A,et al.Atherogenic Index of Plasma:Novel Predictive Biomarker for Cardiovascular Illnesses[J].2019,50(5):285-294.
[10] HUANG H M,YU X L,LI L M,et al.Atherogenic index of plasma is related to coronary atherosclerotic disease in elderly individuals:a cross-sectional study[J].Lipids Health Dis,2021,20:68.
[11] ROTH G A,JOHNSON C,ABAJOBIR A,et al.Global,regional,and national burden of cardiovascular diseases for 10 causes,1990 to 2015[J].J Am Coll Cardiol,2017,70(1):1-25.
[12] 中国成人血脂异常防治指南制定联合委员会.中国成人血脂异常防治指南[J].中华心血管病杂志,2007,35(5):390-413.
[13] RONG Y,CHEN L,ZHU T,et al.Egg consumption and risk of coronary heart disease and stroke:dose-response meta-analysis of prospective cohort studies[J].BMJ,2013,346:e8539.
[14] 黄绯绯,张汲,王惠君,等.膳食胆固醇摄入量对30岁以上人群脑卒中发病的纵向研究[J].卫生研究,2016,45(3):383-387.
[15] NETSELAAR L G,DE JESUS J M,DESILVA D M,et al.Dietary Guidelines for Americans,2020-2025:Understanding the Scientific Process,Guidelines,and Key Recommendations[J].Nutrition Today,2021,56(6):287-295.
[16] NIIMI M,YANG D,KITAJIMA S,et al.ApoE knockoutrabbits:a novel model for the study of human hyperlipidemia[J].Atherosclerosis,2016,245:187-193.
[17] KAJAL A,KISHORE L,KAUR N,et al.Therapeutic agents for the management of atherosclerosis from herbal sources.Beni-Suef Univ[J].J Basic Appl Sci,2016,5:156-169.
[18] LEDUC V,BOURQUE L,POIRIER J,et al.Role of rs3846662 and HMGCR alternative splicing in statin efficacy and baseline lipid levels in familial hypercholesterolemia[J].Pharmacogenet Genomics,2016,26(1):1-11.
[19] 童煜,张思仲,苏智广,等.HMG-CoA还原酶基因多态性与血浆血脂的关系[J].中华医学遗传学杂志,2003(3):35-38.
[20] KAJINAMI K,TAKEKOSHI N,BROUSSEAU M E,et al.Pharmacogenetics of HMG-CoA reductase inhibitors:exploring the potential for genotype-based individualization of coronary heart disease management[J].Atherosclerosis,2004,177(2):219-234.

服务与反馈:
文章下载】【发表评论】【查看评论】【加入收藏
提示:您还未登录,请登录!点此登录
您是第 428230 位访问者


copyright ©《东南大学学报(医学版)》编辑部
联系电话:025-83272481 83272483
电子邮件:
bjb@pub.seu.edu.cn

苏ICP备09058364