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Titolo:
A COMMON MUTATION IN THE LIPOPROTEIN-LIPASE GENE (N291S) ALTERS THE LIPOPROTEIN PHENOTYPE AND RISK FOR CARDIOVASCULAR-DISEASE IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA
Autore:
WITTEKOEK ME; PIMSTONE SN; REYMER PWA; FEUTH L; BOTMA GJ; DEFESCHE JC; PRINS M; HAYDEN MR; KASTELEIN JJP;
Indirizzi:
UNIV BRITISH COLUMBIA,DEPT MED GENET,416-2125 E MALL VANCOUVER BC V6T1Z4 CANADA UNIV BRITISH COLUMBIA,DEPT MED GENET VANCOUVER BC V6T 1Z4 CANADA UNIV AMSTERDAM,ACAD MED CTR,LIPID RES GRP,DEPT VASC MED NL-1105 AZ AMSTERDAM NETHERLANDS UNIV AMSTERDAM,ACAD MED CTR,DEPT MED STAT NL-1105 AZ AMSTERDAM NETHERLANDS
Titolo Testata:
Circulation
fascicolo: 8, volume: 97, anno: 1998,
pagine: 729 - 735
SICI:
0009-7322(1998)97:8<729:ACMITL>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
FREQUENTLY OCCURRING MUTATION; HDL CHOLESTEROL LEVELS; MYOCARDIAL-INFARCTION; PLASMA; EXPRESSION; ASN291SER; ATHEROSCLEROSIS; HYPERLIPIDEMIA; ASSOCIATION; DEFICIENCY;
Keywords:
GENERICS; LIPOPROTEINS; ATHEROSCLEROSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
M.E. Wittekoek et al., "A COMMON MUTATION IN THE LIPOPROTEIN-LIPASE GENE (N291S) ALTERS THE LIPOPROTEIN PHENOTYPE AND RISK FOR CARDIOVASCULAR-DISEASE IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA", Circulation, 97(8), 1998, pp. 729-735

Abstract

Background-Recently, a mutation in the lipoprotein lipase (LPL) gene (N291S) has been reported in 2% to 5% of individuals in western populations and is associated with increased triglyceride (TG) and reduced HDL cholesterol (HDLC) concentrations, Methods and Results-Here we report a significant alteration in biochemical and clinical phenotype in subjects with familial hypercholesterolemia (FH) who are heterozygous for this N291S LPL mutation, Sixty-four FH heterozygotes carr)ring the N291S mutation had significantly a higher TG level (P=.004), a higher ratio of total cholesterol to HDLC (P<.001), and lower HDLC concentrations (P=.002) compared with 175 FH heterozygotes without this LPL mutation, Moreover, the N291S mutation conferred a significantly greater risk for developing cardiovascular disease in FH heterozygotes comparedwith FH heterozygotes without this LPL mutation (odds ratio, 3.875; P=.006). Conclusions-These data provide evidence that a common LPL variant (N291S) significantly influences the biochemical phenotype and risk for cardiovascular disease in patients with FH.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/04/20 alle ore 07:15:31