Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study
Autore:
Gagne, SE; Larson, MG; Pimstone, SN; Schaefer, EJ; Kastelein, JJP; Wilson, PWF; Ordovas, JM; Hayden, MR;
Indirizzi:
Univ British Columbia, Ctr Mol Med & Therapeut, Dept Med Genet, Vancouver,BC V5Z 4H4, Canada Univ British Columbia Vancouver BC Canada V5Z 4H4 uver,BC V5Z 4H4, Canada Boston Univ, Framingham Heart Study, Framingham, MA USA Boston Univ Framingham MA USA Framingham Heart Study, Framingham, MA USA NHLBI, Framingham Heart Study, Boston, MA USA NHLBI Boston MA USANHLBI, Framingham Heart Study, Boston, MA USA Tufts Univ, USDA, Human Nutr Res Ctr Aging, Lipid Metab Lab, Boston, MA 02111 USA Tufts Univ Boston MA USA 02111 ing, Lipid Metab Lab, Boston, MA 02111 USA Acad Med Ctr, Dept Vasc Med, Amsterdam, Netherlands Acad Med Ctr Amsterdam Netherlands ept Vasc Med, Amsterdam, Netherlands
Titolo Testata:
CLINICAL GENETICS
fascicolo: 6, volume: 55, anno: 1999,
pagine: 450 - 454
SICI:
0009-9163(199906)55:6<450:ACTVOL>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
HDL CHOLESTEROL LEVELS; ARTERY DISEASE; MUTATION; ATHEROSCLEROSIS; SUBSTITUTION; ASN291SER; GENE;
Keywords:
coronary heart disease; gene; lipoprotein lipase; polymorphisms;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Hayden, MR Univ British Columbia, Ctr Mol Med & Therapeut, Dept Med Genet,980 W 28thAve, Vancouver, BC V5Z 4H4, Canada Univ British Columbia 980 W 28th Ave Vancouver BC Canada V5Z 4H4
Citazione:
S.E. Gagne et al., "A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study", CLIN GENET, 55(6), 1999, pp. 450-454

Abstract

Genetic variation at the lipoprotein lipase (LPL) locus has been shown to influence plasma lipids and to modulate risk of coronary heart disease (CHD). Recently, we found that the most frequent variant at this locus, involving a C-terminal truncation of two amino acids (Ser447X). was associated with both higher LPL. activity and high density lipoprotein cholesterol (HDL-C) in patients with CHD. However, the impact of this S447X variant on lipidsand CHD in the general population was hitherto unknown. We, therefore, analyzed a total of 1114 men and 1144 women randomly ascertained from the Framingham Offspring Study (FOS) for the presence of this LPL variant. Carrier frequency of the S447X allele was 17%, and in men carrier status was associated with higher total cholesterol (Delta = 6.2 mg/dl, p = 0.03), higher HDL-C (Delta = 2.3 mg/dl. p = 0.01), and lower triglyceride (TG) levels (Delta = - 19.4 mg/dl, p = 0.02). Moreover, in men, the S447X allele conferred significant protection against CHD (odds ratio. 0.43. p = 0.04). These effects on lipids and CHD were not seen in women. Our study represents the firstreport on the impact of this mutation on CHD in men from the general population. and we conclude, therefore, that the S447X variant may confer significant protection against high TG levels, low HDL-C. and premature CHD in these subjects.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/06/20 alle ore 00:02:47