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Titolo:
Determinants of lipid level variability in French-Canadian children with familial hypercholesterolemia
Autore:
Lambert, M; Assouline, L; Feoli-Fonseca, JC; Brun, N; Delvin, EE; Levy, E;
Indirizzi:
Univ Montreal, Med Genet Serv, Hop St Justine, Dept Pediat, Montreal, PQ H3T 1C5, Canada Univ Montreal Montreal PQ Canada H3T 1C5 at, Montreal, PQ H3T 1C5, Canada Univ Montreal, Dept Clin Biochem, Hop St Justine, Montreal, PQ H3T 1C5, Canada Univ Montreal Montreal PQ Canada H3T 1C5 ne, Montreal, PQ H3T 1C5, Canada Univ Montreal, Dept Nutr, Hop St Justine, Montreal, PQ H3T 1C5, Canada Univ Montreal Montreal PQ Canada H3T 1C5 ne, Montreal, PQ H3T 1C5, Canada
Titolo Testata:
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
fascicolo: 6, volume: 21, anno: 2001,
pagine: 979 - 984
SICI:
1079-5642(200106)21:6<979:DOLLVI>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
APOLIPOPROTEIN-E POLYMORPHISM; DENSITY-LIPOPROTEIN CHOLESTEROL; B SIGNAL PEPTIDE; APO-B; GENE; PLASMA; ASSOCIATION; POPULATION; PHENOTYPE; SECRETION;
Keywords:
familial hypercholesterolemia; children; apoE; apoB; allelic variations;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Lambert, M Univ Montreal, Med Genet Serv, Hop St Justine, Dept Pediat, 3175 Cote Ste Catherine, Montreal, PQ H3T 1C5, Canada Univ Montreal 3175 Cote Ste Catherine Montreal PQ Canada H3T 1C5
Citazione:
M. Lambert et al., "Determinants of lipid level variability in French-Canadian children with familial hypercholesterolemia", ART THROM V, 21(6), 2001, pp. 979-984

Abstract

The wide variability in the biochemical expression of familial hypercholesterolemia (FH) is only partly explained by mutational heterogeneity in the low density lipoprotein receptor (LDLR) gene. In the current study, we measured this biochemical variability in a group of children heterozygous for the > 15-kb LDLR gene deletion (n=67) and examined the contribution of apolipoprotein (apo) E and B allelic variations to this phenotypic variability. Variances of total cholesterol (TC), LDL-C, and apoB concentrations and of the ratio of TC to high density lipoprotein cholesterol (HDL-C) were increased in FH subjects compared with controls. However. after taking the means into account, the coefficients of variation showed that the variability of LDL-C and apoB concentrations was smaller for FH than for controls and thatthe variability of TC and of the ratio TC to HDL-C was similar between both groups. The epsilon2/3 genotype was associated with lower mean TC, LDL-C,and apoB concentrations in FH. The magnitude of this effect was smaller incontrols than in FH. Indeed, the percentages of total variance of TC, LDL-C, and apoB attributable to the apoE locus were 19.9%, 18.1%, and 11.8%, respectively, in FH cases and 5.9%, 7.4%, and 6.0%, respectively, in controls. We did not detect any effect of the apoB insertion/deletion polymorphism on lipid traits in FH children. However, in controls, we observed a strong interaction between apoE and apoB genotypes on apoB concentrations and on TC to HDL-C ratios. Our study reemphasizes the important role of apoE in lipid metabolism and illustrates that the effects of allelic variations on lipid traits are context dependent.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/03/20 alle ore 08:45:10