Genetic variations in the cholesteryl ester transfer protein gene and high density lipoprotein cholesterol levels in Taiwanese Chinese

Human Genetics

Volumn 110, Issue 1, 2002, Pages 57-63

  Hsu, Lung An ^a   Ko, Yu Lin ^a   Hsu, Kuang Hung ^b   Ko, Yu Hsien ^a   Lee, Ying Shiung ^a  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b CHANG GUNG UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; CHOLESTEROL ESTER TRANSFER PROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TAQ POLYMERASE; TRIACYLGLYCEROL;

ADULT; AGED; ALLELE; ARTICLE; CHINESE; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL ESTER TRANSFER PROTEIN GENE; COMPARATIVE STUDY; CONTROLLED STUDY; CORONARY ARTERY DISEASE; CORONARY RISK; ENVIRONMENTAL FACTOR; FEMALE; GENE; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MALE; MULTIVARIATE ANALYSIS; MUTATIONAL ANALYSIS; OBESITY; PLASMA; POPULATION GENETICS; PRIORITY JOURNAL; SEX DIFFERENCE; TAIWAN; TRIACYLGLYCEROL BLOOD LEVEL;

ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CARRIER PROTEINS; CHINA; CHOLESTEROL; CHOLESTEROL ESTER TRANSFER PROTEINS; CHOLESTEROL ESTERS; CHOLESTEROL, HDL; CHOLESTEROL, LDL; FEMALE; GENE FREQUENCY; GLYCOPROTEINS; HUMANS; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; TAIWAN; TRIGLYCERIDES; VARIATION (GENETICS);

EID: 0036461212     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-001-0640-z     Document Type: Article

References (36)

1. Agerholm-Larsen B, Nordestgaard BG, Steffensen R, Jensen G, Tybjærg-Hansen A (2000) Elevated HDL cholesterol is a risk factor for ischemic heart disease in white women when caused by a common mutation in the cholesteryl ester transfer protein gene. Circulation 101:1907-1912
2. Akita H, Chiba H, Tsuchihashi K, Tsuji M, Kumagai M, Matsuno K, Kobayashi K (1994) Cholesteryl ester transfer protein gene: Two common mutations and their effect on plasma high-density lipoprotein cholesterol content. J Clin Endocrinol Metab 79:1615-1618
3. Barter PJ, Hopkins GJ, Gorjatschko L, Jones ME (1984) Competitive inhibition of plasma cholesterol esterification by human high-density lipoprotein-subfraction 2. Biochem Biophys Acta 793:260-268
4. Brown ML, Inazu A, Hesler CB, Agellon LB, Mann C, Whitlock ME, Marcel YL, Milne RW, Koizumi J, Mabuchi H, Takeda R, Tall AR (1989) Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins. Nature 342:448-451
5. Bruce C, Sharp DS, Tall AR (1998) Relationship of HDL and coronary heart disease to a common amino acid polymorphism in the cholesteryl ester transfer protein in men with and without hypertriglyceridemia. J Lipid Res 39:1071-1078
6. Bu X, Warden CH, Xia YR, De Meester C, Puppione DL, Teruya S, Lokensgard B, Daneshmand S, Brown J, Gray RJ, Rotter JI, Lusis AJ (1994) Linkage analysis of the genetic determinants of high density lipoprotein concentrations and composition: Evidence for involvement of the apolipoprotein A-II and cholesteryl ester transfer protein loci. Hum Genet 93:639-648
7. Cohen JC, Wang Z, Grundy SM, Stoesz MR, Guerra R (1994) Variation at the hepatic lipase and apolipoprotein AI/CIII/AIV loci is a major cause of genetically determined variation in plasma HDL cholesterol levels. J Clin Invest 94:2377-2384
8. Corbex M, Poirier O, Fumeron F, Betoulle D, Evans A, Ruidavets JB, Arveiler D, Luc G, Tiret L, Cambien F (2000) Extensive association analysis between the CETP gene and coronary heart disease phenotypes reveals several putative functional polymorphisms and gene-environmental interaction. Genet Epidemiol 19:64-80
9. Dachet C, Poirier O, Cambien F, Chapman J, Rouis M (2000) New functional promoter polymorphism, CETP/-629, in cholesteryl ester transfer protein (CETP) gene related to CETP mass and high density lipoprotein cholesterol levels. Role of the Sp1/Sp3 in transcriptional regulation. Arterioscler Thromb Vasc Biol 20:507-515
10. Drayna D, Lawn R (1987) Multiple RFLPs at the human cholesteryl ester transfer protein (CETP) locus. Nuclei Acids Res 15:4698
11. Dunnen JT, Den Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
12. Freeman DJ, Shepherd J, Packard CJ, Humphries SE, Gaffney D (2001) An StuI RFLP at the human cholesteryl ester transfer protein (CETP) locus. Nuclei Acids Res 17:2880
13. Freeman DJ, Packard CJ, Shepherd J, Gaffney D (1990) Polymorphisms in the gene coding for cholesteryl ester transfer protein are related to plasma high density lipoprotein cholesterol and transfer protein activity. Clin Sci 79:575-581
14. Freeman DJ, Griffin BA, Holmes AP, Lindsay GM, Gaffney D, Packard CJ, Shepherd J (1994) Regulation of plasma HDL cholesterol and subfraction distribution by genetic and environmental factors: Associations between the TaqI B RFLP in the CETP gene and smoking and obesity. Arterioscler Thromb 14:336-344
15. Fumeron F, Betoulle D, Luc G, Behague I, Ricard S, Poirier O, Jemaa R, Evans A, Arveiler D, Marques-Vidal P, Bard JM, Fruchart JC, Ducimetiere P, Apfelbaum M, Cambien F (1995) Alcohol intake modulates the effect of a polymorphism of the cholesteryl ester transfer protein gene on plasma high density lipoprotein and the risk of myocardial infarction. J Clin Invest 96:1664-1671
16. Gudnason V, Kakko S, Nicaud V, Savolainen MJ, Kesäniemi YA, Tahvanainen E, Humphries S, on behalf of the EARS group (1999) Cholesteryl ester transfer protein gene effect on CETP activity and plasma high-density lipoprotein in European populations. Eur J Clin Invest 29:116-128
17. Hannuksela ML, Liinamaa MJ, Kesaniemi YA, Savolainen MJ (1994) Relation of polymorphisms in the cholesteryl ester transfer gene to transfer protein activity and plasma lipoprotein levels in alcohol drinkers. Atherosclerosis 110:35-44
18. Hirano K, Yamashita S, Funahashi T, Sakai N, Menju M, Ishigami M, Hiraoka H, Kameda-Takemura K, Tokunaga K, Hoshino T, Kumasaks K, Kawano K, Matsuzawa Y (1993) Frequency of intron 14 splicing defect of cholesteryl ester transfer protein gene in the Japanese population. Atherosclerosis 100:85-90
19. Hirano K, Yamashita S, Nakajima N, Arai T, Maruyama T, Yoshida Y, Ishigami M, Sakai N, Kameda-Takemura K, Matsuzawa Y (1997) Genetic cholesteryl ester transfer protein deficiency is extremely frequent in the Omagari area of Japan: Marked hyperalphalipoproteinemia caused by CETP gene mutation is not associated with longevity. Arterioscler Thromb Vasc Biol 17:1053-1059
20. Inazu A, Brown ML, Hesler CB, Agellon LB, Koizumi J, Takata K, Maruhama Y, Mabuchi H, Tall AR (1990) Increased high-density lipoprotein levels caused by a common cholesteryl ester transfer protein gene mutation. N Engl J Med 323:1234-1238
21. Inazu A, Jiang XC, Haraki T, Yagi K, Kamon N, Koizumi J, Mabuchi H, Takeda R, Takata K, Moriyama Y, Doi M, Tall AR (1994) Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinants of increased levels of high density lipoprotein cholesterol. J Clin Invest 94:1872-1882
22. Kauma H, Savolainen MJ, Heikkilä R, Rantala AO, Lilja M, Reunanen A, Kesäniemi YA (1996) Sex difference in the regulation of plasma high density lipoprotein cholesterol by genetic and environmental factors. Hum Genet 97:156-162
23. Koizumi J, Mabuchi H, Yoshimura A, Michishita I, Takeda M, Itoh H, Sakai Y, Sakai T, Ueda K, Takeda R (1985) Deficiency of serum cholesteryl ester transfer activity in patients with familial hyperalphalipoproteinemia. Atherosclerosis 58:175-186
24. Kondo I, Berg K, Drayna D, Lawn R (1989) DNA polymorphism at the locus for human cholesteryl ester transfer protein (CETP) is associated with high density lipoprotein cholesterol and apolipoprotein levels. Clin Genet 35:49-56
25. Kuusi T, Kesaniemi YA, Vuoristo M, Miettinen TA, Koskenvuo M (1987) Inheritance of high density lipoprotein and lipoprotein lipase and hepatic lipase activity. Arteriosclerosis 7:421-425
26. Mann CJ, Yen FT, Grant AM, Bihain BE (1991) Mechanism of plasma cholesteryl ester transfer in hypertriglyceridemia. J Clin Invest 88:2059-2066
27. Moulin P, Cheung MC, Bruce C, Zhong S, Cocke T, Richardson H, Tall AR (1994) Gender effects on the distribution of the cholestryl ester transfer protein in apolipoprotein A-I-defined lipoprotein subpopulations. J Lipid Res 35:793-802
28. Murakami T, Michelagnoli S, Longhi R, Gianfranceschi G, Pazzucconi F, Calabresi L, Sirtori CR, Franceschini G (1995) Triglycerides are major determinants of cholesterol esterification/transfer and HDL remodeling in human plasma. Arterioscler Thromb Vasc Biol 15:1819-1828
29. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet DOI 10.1007/s00439-001-0615-0
30. Sakai N, Yamashita S, Hirano K, Menju M, Arai T, Kobayashi K, Ishigami M, Yoshida Y, Hoshino T, Nakajima N, Kameda-Takemura K, Matsuzawa Y (1995) Frequency of exon 15 missense mutation (442D:G) in cholesteryl ester transfer protein gene in hyperalphalipoproteinemic Japanese subjects. Atherosclerosis 114:139-145
31. Song GJ, Han GH, Chae JJ, Namkoong Y, Lee HK, Park YB, Lee CC (1997) The effects of the cholesterol ester transfer protein gene and environmental factors on the plasma high density lipoprotein cholesterol levels in the Korea population. Mol Cells 7:615-619
32. Takahashi K, Jiang XC, Sakai N, Yamashita S, Hirano K, Bujo H, Yamazaki H, Kusunoki J, Miura T, Kussie P, Matsuzawa Y, Saito Y, Tall A (1993) A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins. J Clin Invest 92:2060-2064
33. Tall AR (1990) Plasma high density lipoprotein. Metabolism and relationship to atherogenesis. J Clin Invest 86:379-384
34. Tato F, Vega GL, Grundy SM (1997) Determinants of plasma HDL-cholesterol in hypertriglyceridemia patients: Role of cholesterol-ester transfer protein and lecithin cholesteryl acyl transferase. Arterioscler Thromb Vasc Biol 17:56-63
35. Thompson EA, Deeb S, Walker D, Motulsky AG (1988) The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet 42:113-124
36. Zuliani G, Hobbs HH (1990) EcoNI polymorphism in the human cholesteryl ester transfer protein (CETP) gene. Nuclei Acids Res 18:2834