载脂蛋白C-Ⅲ基因多态性的研究进展

张丁丁; 辛永宁; 徐静; 宣世英

载脂蛋白C-Ⅲ基因多态性的研究进展

1. 青岛大学医学院
2. 青岛市市立医院消化内二科
3. 中国海洋大学医药学院
4. 青岛市消化疾病重点实验室

详细信息

中图分类号: R346
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出版历程
- 出版日期: 2012-02-20

Research advance of the apolipoproteinC-Ⅲ polymorphisms

摘要

摘要: 载脂蛋白C-Ⅲ（APOC-Ⅲ）通过抑制脂蛋白酶而调节体内脂质代谢。APOC-Ⅲ基因的多态性变化会影响APOC-Ⅲ蛋白的表达与功能,引起体内脂质代谢的改变。研究比较深入的APOC-Ⅲ基因多态性位点是位于3’端非编码区的3238C>G（即SstI多态性）,位于启动子区胰岛素反应元件上的-482C>T和-455T>C,它们与代谢综合征（MS）、冠心病（CAD）、非酒精性脂肪性肝病（NAFLD）密切相关。本综述旨在总结前人的研究成果,为今后的工作发现新思路。
- 载脂蛋白C-Ⅲ /
- 基因多态性 /
- 代谢综合征 /
- 冠心病 /
- 脂肪肝,非酒精性
Abstract: ApolipoproteinC-Ⅲ (APOC-Ⅲ) can affect lipid metabolism through inhibition of lipoprotein lipase (LPL) .Polymorphisms in the APOC-Ⅲ gene may affect the expression and function of the protein, thereafter interfering the lipid metabolism.The most famous single nucleotide polymorphisms (SNPs) are 3238C>G polymorphism (SstI site) in the 3'untranslated region, -482C>T and-455T>C polymorphisms in the insulin response element (IRE) of the promoter.There are strong associations between APOC-Ⅲ gene variants and diseases such as metabolic syndrome (MS) , coronary artery disease (CAD) and nonalcoholic fatty liver disease (NAFLD) .This review aims to summarize achievements and explore new ways for our future work.
- apolipoproteinC-Ⅲ /
- gene polymorphism /
- metabolic syndrome /
- coronary disease /
- fatty liver

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参考文献(33)

[1]Antonarakis SE, Oettgen P, Chakravarti A, et al.DNA poly-morphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster[J].Hum Genet, 1988, 80 (3) :265-273.

[2]Hegele RA, Brunt JH, Connelly PW.Multiple genetic determi-nants of variation of plasma lipoproteins in Alberta Hutterites[J].Arterioscler Thromb Vasc Biol, 1995, 15 (7) :861-871.

[3]Russo GT, Meigs JB, Cupples LA, et al.Association of theSst-I polymorphism at the APOC3 gene locus with varia-tions in lipid levels, lipoprotein subclass profiles and coronaryheart disease risk:the Framingham offspring study[J].Ath-erosclerosis, 2001, 158 (1) :173-181.

[4]Chhabra S, Narang R, Krishnan LR, et al.Apolipoprotein C3SstI polymorphism and triglyceride levels in Asian Indians[J].BMC Genet, 2002, 3:9.

[5]Liu HK, Li XF, Zhang SZ, et al.Association of Sst I polymor-phism in apolipoprotein C3 gene with hypertriglyceridaemia incoronary atherosclerotic heart disease and type II diabetesmellitus in Chinese population[J].Yi Chuan Xue Bao, 2005, 32 (1) :11-18.

[6]Clemente-Postigo M, Queipo-Ortuo M, Valdivielso P, etal.Effect of apolipoprotein C3 and apolipoprotein A1 poly-morphisms on postprandial response to a fat overload in met-abolic syndrome patients[J].Clin Biochem, 2010, 43 (16-17) :1300-1304.

[7]StancákováA, BaldaufováL, Javorsky M, et al.Effect ofgene polymorphisms on lipoprotein levels in patients withdyslipidemia of metabolic syndrome[J].Physiol Res, 2006, 55 (5) :483-490.

[8]Salas J, Jansen S, López-Miranda J, et al.The SstI poly-morphism of the apolipoprotein C-III gene determines theinsulin response to an oral-glucose-tolerance test afterconsumption of a diet rich in saturated fats[J].Am J ClinNutr, 1998, 68 (2) :396-401.

[9]Liu S, Song Y, Hu FB, et al.A prospective study of the APOA1XmnI and APOC3 SstI polymorphisms in the APOA1/C3/A4gene cluster and risk of incident myocardial infarction in men[J].Atherosclerosis, 2004, 177 (1) :119-126.

[10]Miller M, Rhyne J, Chen H, et al.APOC3promoter polymor-phisms C-482T and T-455C are associated with the metabolicsyndrome[J].Arch Med Res, 2007, 38 (4) :444-451.

[11]Povel CM, Boer JM, Reiling E, et al.Genetic variants andthe metabolic syndrome:a systematic review[J].ObesRev, 2011, 12 (11) :952-967.

[12]Waterworth DM, Talmud PJ, Humphries SE, et al.Variableeffects of the APOC3-482C>T variant on insulin, glucoseand triglyceride concentrations in different ethnic groups[J].Diabetologia, 2001, 44 (2) :245-248.

[13]Yamada Y, Kato K, Kameyama T, et al.Genetic factors forobesity[J].Int J Mol Med, 2006, 18 (5) :843-851.

[14]Li GP, Wang JY, Yan SK, et al.Genetic effect of two poly-morphisms in the apolipoprotein A5 gene and apolipoproteinC3 gene on serum lipids and lipoproteins levels in a Chinesepopulation[J].Clin Genet, 2004, 65 (6) :470-476.

[15]Pollex RL, Ban MR, Young TK, et al.Association betweenthe-455T>C promoter polymorphism of the APOC3 geneand the metabolic syndrome in a multi-ethnic sample[J].BMC Med Genet, 2007, 8:80.

[16]Yamada Y, Matsuo H, Warita S, et al.Prediction of genetic riskfor dyslipidemia[J].Genomics, 2007, 90 (5) :551-558.

[17]Dorfmeister B, Cooper JA, Stephens JW, et al.The effect ofAPOA5 and APOC3 variants on lipid parameters in EuropeanWhites, Indian Asians and Afro-Caribbeans with type 2 diabe-tes[J].Biochim Biophys Acta, 2007, 1772 (3) :355-363.

[18]Minihane AM, Finnegan YE, Talmud P, et al.Influence ofthe APOC3-2854T>G polymorphism on plasma lipid lev-els:effect of age and gender[J].Biochim Biophys Acta, 2002, 1583 (3) :311-314.

[19]Atzmon G, Rincon M, Schechter CB, et al.Lipoprotein gen-otype and conserved pathway for exceptional longevity in hu-mans[J].PLoS Biol, 2006, 4 (4) :e113.

[20]Delgado-Lista J, Perez-Jimenez F, Ruano J, et al.Effects ofvariations in the APOA1/C3/A4/A5 gene cluster on different pa-rameters of postprandial lipid metabolism in healthy young men[J].Lipid Res, 2010, 51 (1) :63-73.

[21]Pollin TI, Damcott CM, Shen H, et al.A null mutation in hu-man APOC3 confers a favorable plasma lipid profile and ap-parent cardioprotection[J].Science, 2008, 322 (5908) :1702-1705.

[22]Edward A, Ruiz-Narváez, Yang YD, et al.APOC3/A5hap-lotypes, lipid levels, and risk of myocardial infarction in theCentral Valley of Costa Rica[J].J Lipid Res, 2005, 46 (12) :2605-2613.

[23]Abd EI-Aziz TA, Monamed RH, Hashem RM.Associationof lipoprotein lipase and apolipoprotein C-III genes polymor-phism with acute myocardial infarction in diabetic patients[J].Mol Cell Biochem, 2011, 354 (1-2) :141-150.

[24]ShanRer J, Perumal G, Rao VS, et al.Genetic studies on theAPOA1-C3-A5 gene cluster in Asian Indians with prematurecoronary artery disease[J].Lipids Health Dis, 2008, 7:33.

[25]Liu S, Song Y, Hu FB, et al.A prospective study of the APOA1XmnI and APOC3SstI polymorphisms in the APOA1/C3/A4gene cluster and risk of incident myocardial infarction in men[J].Atherosclerosis, 2004, 177 (1) :119-126.

[26]Olivieri O, Bassi A, Stranieri C, et al.Apolipoprotein C-III, metabolic syndrome, and risk of coronary artery disease[J].J Lipid Res, 2003, 44 (12) :2374-2381.

[27]Olivieri O, Stranieri C, Bassi A, et al.ApoC-III gene poly-morphisms and risk of coronary artery disease[J].J LipidRes, 2002, 43 (9) :1450-1457.

[28]Muendlein A, Saely CH, Marte T, et al.Synergistic effectsof the apolipoprotein E epsilon3/epsilon2/epsilon4, the chol-esteryl ester transfer protein TaqIB, and the apolipoproteinC3-482 C>T polymorphisms on their association with cor-onary artery disease[J].Atherosclerosis, 2008, 199 (1) :179-186.

[29]Dallongeville J, Cottel D, Montaye M, et al.Impact of APOA5/A4/C3 genetic polymorphisms on lipid variables and cardiovas-cular disease risk in French men[J].Int J Cardiol, 2006, 106 (2) :152-156.

[30]Petersen KF, Dufour S, Hariri A, et al.Apolipoprotein C3gene variants in nonalcoholic fatty liver disease[J].N Engl JMed, 2010, 362 (12) :1082-1089.

[31]Kozlitina J, Boerwinkle E, Cohen JC, et al.Dissociation be-tween APOC3 variants, hepatic triglyceride content and insu-lin resistance[J].Hepatology, 2011, 53 (2) :467-474.

[32]Sentinelli F, Romeo S, Maglio C, et al.Lack of effect ofapolipoprotein C3 polymorphisms on indices of liver steato-sis, lipid profile and insulin resistance in obese Southern Eu-ropeans[J].Lipids Health Dis, 2011, 10:93.

[33]Valenti L, Nobili V, Al-Serri A, et al.The APOC3T-455Cand C-482T promoter region polymorphisms are not associ-ated with the severity of liver damage independently ofPNPLA3 I148M genotype in patients with nonalcoholic fattyliver[J].J Hepatol, 2011 Jul 21.[Epub ahead of print].

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