DNA polymorphisms in linkage disequilibrium at the 3′ end of the human APO AII gene: Relationships with lipids, apolipoproteins and coronary heart disease

Clinical Genetics

Volumn 50, Issue 4, 1996, Pages 191-198

  Dupuy Gorce, A M ^a,h   Desmarais, E ^b   Vigneron, S ^b   Buresi, C ^b   Nicaud, V ^c   Evans, A ^d   Luc, G ^e   Arveiler, D ^f   Marques Vidal P ^g   Cambien, F ^b   Tiret, L ^c   Crastes De Faulet, A ^a   Roizes G ^b  

^a Institute of Biology   (France)

^b INSERM   (France)

^c HÔPITAL BROUSSAIS   (France)

^d Belfast MONICA Project   (United Kingdom)

^e INSTITUT PASTEUR DE LILLE   (France)

^f Inst d'Hyg et de Mediecine Prev   (France)

^g CHU PURPAN   (France)

^h Institut De Biologie   (France)

Author keywords

Apolipoprotein All; Coronary heart disease; Dyslipoproteinemia; Linkage disequilibrium; Mspl polymorphism; Sequence; Single strand conformation polymorphism; Variants

Indexed keywords

APOLIPOPROTEIN A2;

ADULT; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; GENE LINKAGE DISEQUILIBRIUM; GENOTYPE; HEART INFARCTION; HUMAN; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; APOLIPOPROTEIN A-II; APOLIPOPROTEINS; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC MARKERS; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; LIPIDS; MALE; MIDDLE AGED; MYOCARDIAL INFARCTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0030444322     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb02624.x     Document Type: Article

References (28)

1. Brewer H, Rader DJ. HDL: structure, function, and metabolism. Prog Lipid Res 1991: 30: 139-144.
2. Casanova JL, Pannetier C, Jaulin C, Kourilsky P. Optimal conditions for directly sequencing double stranded PCR products with Sequenase. Nucl Acid Res 1990: 18: 4028.
3. Civiera F, Genest J, Pocovi M, Salem D, Herbert PN, Wilson PWF, Schaeffer EJ, Ordovas JM. The MspI restriction fragment length polymorphism 3′ to the apolipoprotein AII gene: relationships with lipids, apolipoproteins and premature coronary artery disease. Atherosclerosis 1992: 92: 165-176.
4. Deeb S, Failor A, Brown BG, Brunzell JD, Albers JJ, Motulski AG. Molecular genetics of apolipoproteins and coronary artery disease. Cold Spring Harbor Symp Quant Biol 1986: 51: 403.
5. Deeb SS, Takata K, Peng R, Kajiyama G, Albers J. A splice junction mutation responsible for familial apolipoprotein AII deficiency. Am J Hum Genet 1990: 46: 822-827.
6. Ferns GAA, Shelley CS, Stocks J, Rees A, Paul H, Baralle F, Galton DJ. A DNA polymorphism of the apoprotein AII gene in hypertriglyceridaemia. Hum Genet 1986: 74: 302-306.
7. Hegele R A, Hennekens CH, Breslow JL. Allele frequencies of apolipoproteins AI and AII gene locus DNA polymorphisms in Boston-based Whites. Hum Hered 1989: 39: 174-179.
8. Hill W G. Tests of association of gene frequencies at several loci in random mating diploid populations. Biometrics 1975: 31: 881-888.
9. Jahn CE, Osborne JC, Schaeffer EJ, Brewer HB. Activation of the enzymatic activity of hepatic lipase by apolipoprotein AII. Eur J Biochem 1983: 131: 25-29.
10. Kessling AM, Rajput-Williams J, Bainton D, Scott J, Miller NE, Baker I, Humphries SE. DNA polymorphisms of the apolipoprotein AII and AI-CIII-AIV genes: a study in men selected for differences in high density lipoprotein cholesterol concentration. Am J Hum Genet 1988: 42: 458-467.
11. Knott TJ, Priestley LM, Urdea M, Scott J. Isolation and characterization of a cDNA encoding the precursor for the human apolipoprotein ÅII. Biochem Biophys Res Commun 1984: 120: 734-740.
12. Knott TJ, Wallis SC, Robertson ME, Priestle LM, Urde M, Rall LB, Scott J. The human apolipoprotein AII gene: structural organization and sites of expression. Nucl Acid Res 1985: 13: 6387-6398.
13. Lackner KJ, Law SW, Brewer HB, Sakaguchi AY, Naylor SL. The human apolipoprotein AII gene is located on chromosome 1. Biochem Biophys Res Commun 1984: 122: 877-883.
14. Maniatis T, Fritsch E, Sambrook J. Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 1989: 646-647.
15. Moore MN, Kao FT, Tsao YK, Chan L. Human apolipoprotein AII: nucleotide sequence of a cloned cDNA and localization of its structural gene on human chromosome 1. Biochem Biophys Res Commun 1984: 123: 1-7.
16. Orita M, Iwahana H, Kanazawwa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphism. Proc Natl Acad Sci 1989a: 86: 2766-2770.
17. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the Polymerase Chain Reaction. Genomics 1989b: 5: 874-879.
18. Parra HJ, Arveiler D, Evans AK, Cambou JP, Amouyel P, Gingham A, McMaster D, Schaeffer P, Douste-Blazy P, Luc G. Richard JL, Ducimetiere P, Fruchart JC, Cambien F. A case control study of lipoprotein particles in two populations at contrasting risk for coronary heart disease: the ECTIM study. Arterioscler Thromb 1992: 12: 701-707.
19. Rajput-Williams J, Eyre J, Nanjee MN, Crook D, Scott J, Miller NE. Plasma lipoprotein lipids in relation to the MspI polymorphism of the apolipoprotein AII gene in Caucasian men. Athrosclerosis 1989: 77: 31-36.
20. Saha N, Tan JAA, Tay JSH. MspI polymorphism of the apolipoprotein AII gene, serum lipids and apolipoproteins in the Chinese from Singapore. Hum Hered 1992: 42: 293-297.
21. Schulte H, Funke H, Frossard P, Coleman R, Assmann G. The MspI RFLP 3́ to the human apolipoprotein AII gene is neutral with respect to atherosclerosis in Germans. Am J Hum Genet 1986: 39 (suppl.): 293.
22. Scott J, Knott TJ, Priestley LM, Robertson ME, Mann DV. High-density lipoprotein composition is altered by a common DNA polymorphism adjacent to apoprotein AII gene in man. Lancet 1985a: i: 771.
23. Scott J, Knott TJ, Priestley LM, Robertson ME, Mann DV, Kostnerg G, Miller GJ, Miller NE. High-density lipoprotein composition is altered by a common DNA polymorphism adjacent to apoprotein AII gene in man. Lancet 1985b: i: 771-773.
24. Sheffield VC, Beck JS, Kwitek AK. Analysis of the effciency of single base substitution detection by SSCP. Cold Spring Harbor Laboratory, New York, 1992: 1-149.
25. Tiret L, Amouyel P, Ratokovao R, Cambien F, Ducimetiere P. Testing for association between disease and linked marker loci. A log-linear model analysis. Am J Hum Genet 1991: 48: 926-934.
26. Tsao YK, Wei CF, Robberson DL, Gotto AM, Cha L. Isolation and characterization of the human apolipoprotein AII gene. J Biol Chem 1985: 260: 15222-15231.
27. WHO MONICA Project Principal Investigators. The World Health Organization MONICA Project (MONItoring trends and determinants in CArdiovascular disease): a major international collaboration. J Clin Epidemiol 1988: 41: 105-114.
28. WHO MONICA Project. A world-wide monitoring system for cardiovascular diseases. Wld Hlth Statist Ann 1989: 27-149.