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Titolo:
Linkage of a candidate gene locus to familial combined hyperlipidemia - Lecithin : cholesterol acyltransferase on 16q
Autore:
Aouizerat, BE; Allayee, H; Cantor, RM; Dallinga-Thie, GM; Lanning, CD; de Bruin, TWA; Lusis, AJ; Rotter, JI;
Indirizzi:
Univ Calif Los Angeles, Dept Med, Div Cardiol, Los Angeles, CA 90095 USA Univ Calif Los Angeles Los Angeles CA USA 90095 Los Angeles, CA 90095 USA Univ Calif Los Angeles, Dept Microbiol & Mol Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles Los Angeles CA USA 90095 Los Angeles, CA 90095 USA Univ Calif Los Angeles, Inst Mol Biol, Los Angeles, CA 90095 USA Univ Calif Los Angeles Los Angeles CA USA 90095 Los Angeles, CA 90095 USA Cedars Sinai Res Inst, Dept Med, Div Med Genet, Los Angeles, CA USA CedarsSinai Res Inst Los Angeles CA USA Med Genet, Los Angeles, CA USA Cedars Sinai Res Inst, Dept Pediat, Div Med Genet, Los Angeles, CA USA Cedars Sinai Res Inst Los Angeles CA USA Med Genet, Los Angeles, CA USA Cedars Sinai Res Inst, Steven Spielberg Pediat Res Ctr, Los Angeles, CA USA Cedars Sinai Res Inst Los Angeles CA USA at Res Ctr, Los Angeles, CA USA Univ Utrecht Hosp, Dept Med, Utrecht, Netherlands Univ Utrecht Hosp Utrecht Netherlands p, Dept Med, Utrecht, Netherlands Univ Hosp Maastricht, Dept Med, Maastricht, Netherlands Univ Hosp Maastricht Maastricht Netherlands ed, Maastricht, Netherlands Univ Hosp Maastricht, Dept Endocrinol, Maastricht, Netherlands Univ Hosp Maastricht Maastricht Netherlands ol, Maastricht, Netherlands
Titolo Testata:
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
fascicolo: 11, volume: 19, anno: 1999,
pagine: 2730 - 2736
SICI:
1079-5642(199911)19:11<2730:LOACGL>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
ESTER TRANSFER PROTEIN; TRIGLYCERIDE TRANSFER PROTEIN; COMPLEX SEGREGATION ANALYSIS; CORONARY HEART-DISEASE; APOLIPOPROTEIN-C-III; LIPOPROTEIN-LIPASE; DENSITY-LIPOPROTEIN; MICROSOMAL TRIGLYCERIDE; COMBINED HYPERLIPEMIA; REPEAT POLYMORPHISM;
Keywords:
familial combined hyperlipidemia; lipid metabolism; genetics; lecithin : cholesterol acyltransferase;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
70
Recensione:
Indirizzi per estratti:
Indirizzo: Lusis, AJ Univ Calif Los Angeles, Dept Med, Div Cardiol, 47-123 CHS, Los Angeles, CA90095 USA Univ Calif Los Angeles 47-123 CHS Los Angeles CA USA 90095 5 USA
Citazione:
B.E. Aouizerat et al., "Linkage of a candidate gene locus to familial combined hyperlipidemia - Lecithin : cholesterol acyltransferase on 16q", ART THROM V, 19(11), 1999, pp. 2730-2736

Abstract

Familial combined hyperlipidemia (FCHL) is a common lipid disorder characterized by elevated levels of plasma cholesterol and triglycerides that is present in 10% to 20% of patients with premature coronary artery disease. Tostudy the pathophysiological basis and genetics of FCHL, we previously reported recruitment of 18 large families. We now report linkage studies of 14candidate genes selected for their potential involvement in the aspects oflipid and lipoprotein metabolism that are altered in FCHL. We used highly polymorphic markers linked to the candidate genes, and these markers were analyzed using several complementary, nonparametric statistical allele-sharing linkage methodologies. This current sample has been extended over the one in which we identified an association with the apolipoprotein (apo) AI-CIII-AIV gene cluster. We observed evidence for linkage of this region and FCHL (P<0.001), providing additional support for its involvement in FCHL. We also identified a new locus showing significant evidence of linkage to the disorder: the lecithin:cholesterol acyltransferase (LCAT) locus (P<0.0006) on chromosome 16. In addition, analysis of the manganese superoxide dismutase locus on chromosome 6 revealed a suggestive linkage result in this sample (P<0.006). Quantitative traits related to FCHL also provided some evidence of linkage to these regions. No evidence of linkage to the lipoprotein lipase gene, the microsomal triglyceride transfer protein gene, or several other genes involved in lipid metabolism was observed. The data suggest that the lecithin:cholesterol acyltransferase and apolipoprotein AI-CIII-AIV loci may act as modifying genes contributing to the expression of FCHL.

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Documento generato il 01/04/20 alle ore 11:22:35