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Titolo:
THE SER(447)-TER MUTATION OF THE LIPOPROTEIN-LIPASE GENE RELATES TO VARIABILITY OF SERUM-LIPID AND LIPOPROTEIN LEVELS IN MONOZYGOTIC TWINS
Autore:
THORN JA; NEEDHAM EWA; MATTU RK; STOCKS J; GALTON DJ;
Indirizzi:
ST BARTHOLOMEWS HOSP,DEPT HUMAN GENET LONDON ENGLAND ST BARTHOLOMEWS HOSP,DEPT METAB LONDON ENGLAND UNIV LONDON ST GEORGES HOSP,SCH MED,DEPT CARDIOL SCI LONDON SW17 0RE ENGLAND UNIV WARWICK,DEPT BIOL SCI COVENTRY CV4 7AL W MIDLANDS ENGLAND
Titolo Testata:
Journal of lipid research
fascicolo: 2, volume: 39, anno: 1998,
pagine: 437 - 441
SICI:
0022-2275(1998)39:2<437:TSMOTL>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
MYOCARDIAL-INFARCTION SURVIVORS; APOLIPOPROTEIN-A-I; HEPATIC LIPASE; INTERFACE RECOGNITION; NONSENSE MUTATION; DOMAIN; POLYMORPHISMS; ASSOCIATIONS; CHOLESTEROL; VARIANTS;
Keywords:
LIPOPROTEIN LIPASE; LPL; EXON 9 MUTATION; MZ TWINS; LIPID/LIPOPROTEIN LEVELS; VARIABILITY GENE; HDL-C;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
38
Recensione:
Indirizzi per estratti:
Citazione:
J.A. Thorn et al., "THE SER(447)-TER MUTATION OF THE LIPOPROTEIN-LIPASE GENE RELATES TO VARIABILITY OF SERUM-LIPID AND LIPOPROTEIN LEVELS IN MONOZYGOTIC TWINS", Journal of lipid research, 39(2), 1998, pp. 437-441

Abstract

Studies on monozygotic twins support a role for genetic determinants of plasma lipid, lipoprotein, and apolipoprotein levels. Gene variantsof the enzyme lipoprotein lipase have been shown to associate with dyslipidemia and coronary artery disease. We assessed the gene-environment interaction by investigating the relationship between the lipoprotein lipase gene and plasma lipid, lipoprotein, and apolipoprotein variability and levels among 54 male monozygotic twin pairs (aged 18-28 years). The Ser(447)-Ter mutation (C-->G transversion) was associated with significantly smaller within-pair differences in plasma high densitylipoprotein-cholesterol (CG [n = 10] vs. CC [n = 44], 3.7 +/- 5.3 mg/dl vs. 6.4 +/- 5.2 mg/dl, P < 0.03) and total cholesterol (CG [n = 10]vs. CC [n = 44], 7.9 +/- 9.4 mg/dl vs. 15.8 +/- 12.7 mg/dl, P < 0.05), indicating attenuated variability in response to environmental stimuli. This observation of a restrictive variability gene effect further supports a role for the lipoprotein lipase gene in the genetic regulation of lipids and lipoproteins and suggests that the Ser(447)-Ter mutation exerts multiple effects. This study also raises the possibility of a genetically determined responsiveness to dyslipidemia therapies.

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Documento generato il 21/09/20 alle ore 19:20:07