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Titolo:
GENDER-RELATED ASSOCIATION BETWEEN THE -93T-]G D9N HAPLOTYPE OF THE LIPOPROTEIN-LIPASE GENE AND ELEVATED LIPID-LEVELS IN FAMILIAL COMBINED HYPERLIPIDEMIA/
Autore:
HOFFER MJV; BREDIE SJH; SNIEDER H; REYMER PWA; DEMACKER PNM; HAVEKES LM; BOOMSMA DI; STALENHOEF AFH; FRANTS RR; KASTELEIN JJP;
Indirizzi:
LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,MGC,POB 9503 NL-2300 RA LEIDEN NETHERLANDS UNIV NIJMEGEN HOSP,DEPT MED,DIV GEN INTERNAL MED NL-6500 HB NIJMEGEN NETHERLANDS FREE UNIV AMSTERDAM,DEPT PSYCHOPHYSIOL AMSTERDAM NETHERLANDS ACAD MED CTR,DEPT VASC MED AMSTERDAM NETHERLANDS TNO,GAUBIUS LAB,PG LEIDEN NETHERLANDS
Titolo Testata:
Atherosclerosis
fascicolo: 1, volume: 138, anno: 1998,
pagine: 91 - 99
SICI:
0021-9150(1998)138:1<91:GABT-D>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
MYOCARDIAL-INFARCTION SURVIVORS; DENSITY-LIPOPROTEIN; LPL GENE; TRIGLYCERIDE LEVELS; MISSENSE MUTATION; NONSENSE MUTATION; PEDIGREE ANALYSIS; DNA; APOLIPOPROTEIN; DEFICIENCY;
Keywords:
FAMILIAL COMBINED HYPERLIPIDEMIA; LIPOPROTEIN LIPASE; FAMILY STUDY; MUTATION ANALYSIS; GENETIC PREDISPOSITION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
50
Recensione:
Indirizzi per estratti:
Citazione:
M.J.V. Hoffer et al., "GENDER-RELATED ASSOCIATION BETWEEN THE -93T-]G D9N HAPLOTYPE OF THE LIPOPROTEIN-LIPASE GENE AND ELEVATED LIPID-LEVELS IN FAMILIAL COMBINED HYPERLIPIDEMIA/", Atherosclerosis, 138(1), 1998, pp. 91-99

Abstract

Familial combined hyperlipidemia (FCHL) is a frequent cause of premature coronary artery disease. Affected family members are characterizedby different combinations of elevated cholesterol and/or triglyceridelevels. A reduction in lipoprotein lipase (LPL) activity has been observed in a subgroup of FCHL patients. Recently, we have demonstrated an increased frequency of mutations in the LPL gene in Dutch FCHL patients compared to normolipidemic controls. In the present study, we haveapplied a pedigree-based maximum likelihood method to study the effect of LPL mutations on the phenotypic expression of FCHL in families. In 40 FCHL probandi, three different previously reported mutations in the LPL gene were identified resulting in amino acid changes, D9N, N291S, and S447X. The D9N mutation in exon 2 appeared to be in strong linkage disequilibrium with a T --> G substitution at position -93 in the promoter region of the LPL gene. We present data that the -93T --> G/D9N haplotype is associated with significantly higher levels of LDL andVLDL cholesterol, and VLDL triglycerides. Interestingly, the effect was only observed in male carriers. In line with our previous observations, these results further sustain that the LPL gene is a susceptibility gene for dyslipidemia which explains part of the variability in thephenotype observed among FCHL family members. (C) 1998 Elsevier Science Ireland Ltd. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/20 alle ore 11:01:59