Common variants in the lipoprotein lipase gene in Brazil: Association with lipids and angiographically assessed coronary atherosclerosis

Clinical Chemistry and Laboratory Medicine

Volumn 41, Issue 10, 2003, Pages 1351-1356

  Rios, Domingos L S ^a   Vargas, André F ^a   Ewald, Gisele M ^a   Torres, Marco R ^b   Zago, Alcides J ^b   Callegari Jacques, Sídia M ^a   Hutz, Mara H ^a  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

Coronary artery disease: CAD; DNA polymorphism; Haplotypes; High density lipoprotein cholesterol: HDL C; LPL gene; Triglycerides

Indexed keywords

ENZYME VARIANT; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; LIPOPROTEIN LIPASE; TRIACYLGLYCEROL;

ADULT; ALLELE; ANGIOCARDIOGRAPHY; ARTICLE; BRAZIL; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; CORONARY ARTERY ATHEROSCLEROSIS; CORONARY ARTERY DISEASE; DIABETES MELLITUS; DIAGNOSTIC VALUE; ETHNOLOGY; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROTEIN ANALYSIS; RISK FACTOR; SEX DIFFERENCE; TRIACYLGLYCEROL BLOOD LEVEL;

AGED; BRAZIL; CORONARY ANGIOGRAPHY; CORONARY ARTERIOSCLEROSIS; FEMALE; GENETICS, POPULATION; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; LIPID METABOLISM; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 0142123427     PISSN: 14346621     EISSN: None     Source Type: Journal    
DOI: 10.1515/CCLM.2003.207     Document Type: Article

References (39)

1. Peyser PA. Genetic epidemiology of coronary artery disease. Epidemiol Rev 1997; 19:80-90.
2. Hodis HN, Mack WJ. Triglyceride-rich lipoproteins and progression of atherosclerosis. Eur Heart J 1998; 19 Suppl A:40-4.
3. Sprecher DL. Triglycerides as a risk factor for coronary artery disease. Am J Cardiol 1998; 82:49-56.
4. Gotto AM Jr. Triglycericle as a risk factor for coronary artery disease. Am J Cardiol 1998; 82:22Q-5Q.
5. Olivecrona T, Hultin M, Bergo M, Olivecrona G. Lipoprotein lipase: regulation and role in lipoprotein metabolism. Proc Nutr Soc 1997; 56:723-9.
6. Zechner R. The tissue-specific expression of lipoprotein lipase: implications for energy and lipoprotein metabolism. Curr Opin Lipidol 1997; 8:77-88.
7. Sparkes RS, Zollman S, Klisak I, Kirchgessner TG, Komaromy MC, Mohandas T, et al. Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21. Genomics 1987; 1:138-44.
8. Hokanson JE. Functional variants in the lipoprotein lipase gene and risk of cardiovascular disease. Curr Opin Lipidol 1999; 10:393-9.
9. Wittrup HH, Tybjærg-Hansen A, Nordestgaard BG. Lipoprotein lipase mutations, plasma lipids and lipoproteins, and risk of ischemic heart disease: a meta-analysis. Circulation 1999; 99:2901-7.
10. Razzaghi H, Aston CE, Hamman RF, Kamboh MI. Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride/low HDL-cholesterol levels. Hum Genet 2000; 107:257-67.
11. Hallman DM, Groenemeijer BE, Jukema JW, Boerwinkle E, Kastelein JJP. Analysis of lipoprotein lipase haplotypes reveals associations not apparent from analysis of the constituent loci. Ann Hum Genet 1999, 63:499-510.
12. Salzano FM, Freire-Maia N, editors. Problems in human biology. A study of Brazilian populations. Detroit: Wayne State University Press, 1970.
13. Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem 1972; 18:499-502.
14. Lahiri DK, Nurnberger JI. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucl Ac Res 1991; 19:5444.
15. Mattu RK, Needham EWA, Morgan R, Rees A, Hackshaw AK, Stocks J, et al. DNA variants at the LPL gene locus associate with angiographically defined severity of atherosclerosis and serum lipoprotein levels in a Welsh population. Arterioscler Thromb 1994; 14:1090-7.
16. Kastelein JJP, Groenemeyer BE, Hallman DM, Henderson H, Reymer PWA, Gagné SE, et al. The Asn 9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. Clin Genet 1998; 53:27-33.
17. Humphries SE, Nicaud V, Margalef J, Tiret L, Talmud PJ, for the EARS. Lipoprotein lipase gene variation is associated with a paternal history of premature coronary artery disease and fasting and post-prandial plasma triglycerides. The European Atherosclerosis Research Study (EARS). Arterioscler Thromb Vasc Biol 1998; 18:526-34.
18. Mailly F, Tugrul Y, Reymer PWA, Bruin T, Seed M, Groenemeyer BF, et al. A common variant in the gene for lipoprotein lipase (Asp9→Asn): functional implications and prevalence in normal and hyperlipidemic subjects. Arterioscler Thromb Vasc Biol 1995; 15:468-78.
19. Zhang H, Reymer PWA, Liu M, Forsythe IJ, Groenemeyer BE, Frohlich J, et al. Patients with apoE3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291→Ser mutation in the human LPL gene. Arterioscler Thromb Vasc Biol 1995; 15:1695-703.
20. Schneider S, Roessli D, Excoffier L. Arlequin ver. 2000: a software for population genetics data analysis. Geneva: Genetics and Biometry Laboratory, University of Geneva, Switzerland, 2000.
21. Lewontin RC. On measures of gametic disequilibrium. Genetics 1988; 120:849-52.
22. Ehrenborg E, Clee SM, Pimstone SN, Reymer PWA, Benlian P, Hoogendijk CF, et al. Ethnic variation and in vivo effects of the -93t→g promoter variant in the lipoprotein lipase gene. ArteriosclerThromb Vasc Biol 1997; 17:2672-8.
23. Arca M, Campagna F, Montali A, Barillà F, Mangieri E, Tanzilli G, et al. The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosis. Clin Genet 2000; 58:369-74.
24. Dornelles CL, Callegari-Jacques SM, Robinson WM, Weimer TA, Franco, MHLP, Hickmann AC, et al. Genetics, surnames, grandparents' nationalities, and ethnic admixture in Southern Brazil - do the patterns of variation coincide? Genet Mol Biol 1999; 22:151-61.
25. Georges JL, Régis-Bailly A, Salah D, Rakotovao R, Siest G, Visvikis S, et al. Family study of lipoprotein lipase gene polymorphisms and plasma triglyceride levels. Genet Epidemiol 1996; 13:179-92.
26. Jemaa R, Fumeron F, Poirier O, Lecerf L, Evans A, Arveiler D, et al. Lipoprotein lipase gene polymorphisms: associations with myocardial infarction and lipoprotein levels, the ECTIM study. J Lipid Res 1995; 36:2141-6.
27. Enerback S, Ohlsson BG, Samuelsson L, Bjursell G. Characterization of the human lipoprotein lipase (LPL) promoter: evidence of two cis-regulatory regions, LP-alpha and LP-beta, of importance for the differentiation-linked induction of LPL gene during adipogenesis. Mol Cell Biol 1992; 12:4622-33.
28. Hussain MM, Obunike JC, Shaheen A, Hussain MJ, Shelness GS, Goldberg IJ. High affinity binding between lipoprotein lipase and lipoproteins involves multiple ionic and hydrophobic interactions, does not require enzyme activity, and is modulated by glycosaminoglycans. J Biol Chem 2000; 275:29324-30.
29. Gagné SE, Larson MG, Pimstone SN, Schaefer EJ, Kastelein JJP, Wilson PWF, et al. A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham offspring study. Clin Genet 1999; 55:450-4.
30. Holmer SR, Hengstenberg C, Mayer B, Döring A, Löwel H, Engel S, et al. Lipoprotein lipase gene polymorphism, cholesterol sub-fractions and myocardial infarction in large samples of the general population. Cardiovasc Res 2000; 47:806-12.
31. Wittrup HH, Nordestgaard BG, Steffensen R, Jensen G, Tybjaerg-Hansen A. Effect of gender on phenotypic expression of the S447X mutation in LPL: the Copenhagen City Heart Study. Atherosclerosis 2002; 165:119-26.
32. Breier C, Drexel H, Lisch HJ, Mühlberger V, Herold M, Knapp E, et al. Essential role of post-heparin lipoprotein lipase activity and of plasma testosterone in coronary artery disease. Lancet 1985; I:1242-4.
33. Senti M, Elousa R, Tomas M, Sala J, Masia R, Ordovas JM, et al. Physical activity modulates the combined effect of a common variant of the lipoprotein lipase gene and smoking on serum triglyceride levels and high-density lipoprotein cholesterol in men. Hum Genet 2001; 109:385-92.
34. Talmud PJ, Humphries SE. Genetic polymorphisms, lipoproteins and coronary artery disease risk. Curr Opin Lipidol 2001; 12:405-9.
35. Fisher RM, Humphries SE, Talmud PJ. Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis. Atherosclerosis 1997; 135:145-59.
36. Gerdes C, Fisher RM, Nicaud V, Boer J, Humphries SE, Talmud PJ, et al. Lipoprotein lipase variants D9N and N291S are associated with increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations: studies in the fasting and post-prandial states: the European atherosclerosis research studies. Circulation 1997; 96:733-40.
37. Talmud PJ, Hall S, Holleran S, Ramakrishnan R, Ginsberg HN, Humphries SE. LPL promoter -93T/G transition influences fasting and post-prandial plasma triglycerides response in African-Americans and Hispanics. J Lipid Res 1998; 39:1189-96.
38. Wittrup HH, Tybjærg-Hansen A, Abildgaard S, Steffensen R, Schnohr P, Nordestgaard BG. A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease. J Clin Invest 1997; 99:1606-13.
39. Wittrup HH, Tybjærg-Hansen A, Steffensen R, Deeb SS, Brunzell JD, Jensen G, et al. Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men: the Copenhagen city heart study. Arterioscler Thromb Vasc Biol 1999; 19:1535-40.