2001
DOI: 10.1161/01.atv.21.6.979
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Determinants of Lipid Level Variability in French-Canadian Children With Familial Hypercholesterolemia

Abstract: 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 Ͼ15-kb LDLR gene deletion (nϭ67) 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 conce… Show more

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Cited by 16 publications
(11 citation statements)
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“…As highlighted in Table 7 , apoE isoforms 2 (rs7412) and 4 (rs429358) may infl uence the effect of LDLR mutations on LDL-C levels in both children and adults (252)(253)(254), consistent with structural ( 255,256 ), functional ( 257 ) and nonADH-1 genetic ( Table 8 ) data. Thus, in (apparently unrelated) heterozygous ADH-1 French-Canadian children with the same 15 kb+ deletion null allele, those with an apo 2/3 genotype had markedly lower total plasma cholesterol, LDL-C, and apoB levels than apo 3 homozygotes, whereas LDL-C levels in children from the general population who had an apo 2/3 genotype were only decreased by 17.4 mg/dl ( 253 ).…”
Section: Cataloguing Ldlr Mutations In Adh-1: Cautionary Tales and Upsupporting
confidence: 61%
See 1 more Smart Citation
“…As highlighted in Table 7 , apoE isoforms 2 (rs7412) and 4 (rs429358) may infl uence the effect of LDLR mutations on LDL-C levels in both children and adults (252)(253)(254), consistent with structural ( 255,256 ), functional ( 257 ) and nonADH-1 genetic ( Table 8 ) data. Thus, in (apparently unrelated) heterozygous ADH-1 French-Canadian children with the same 15 kb+ deletion null allele, those with an apo 2/3 genotype had markedly lower total plasma cholesterol, LDL-C, and apoB levels than apo 3 homozygotes, whereas LDL-C levels in children from the general population who had an apo 2/3 genotype were only decreased by 17.4 mg/dl ( 253 ).…”
Section: Cataloguing Ldlr Mutations In Adh-1: Cautionary Tales and Upsupporting
confidence: 61%
“…Thus, in (apparently unrelated) heterozygous ADH-1 French-Canadian children with the same 15 kb+ deletion null allele, those with an apo 2/3 genotype had markedly lower total plasma cholesterol, LDL-C, and apoB levels than apo 3 homozygotes, whereas LDL-C levels in children from the general population who had an apo 2/3 genotype were only decreased by 17.4 mg/dl ( 253 ). The ADH-1 adult studies also point in the same direction as young children studies, albeit with a more modest LDL-C lowering effect ( 252,254 ).…”
Section: Cataloguing Ldlr Mutations In Adh-1: Cautionary Tales and Upmentioning
confidence: 92%
“…Compared to E3, the E4 isoform has been associated with higher plasma cholesterol concentrations and an increased risk of coronary heart disease in the general population [9][10][11][12]. The effect of ApoE genotype on lipid parameters and CAD risk in FH patients has been assessed by several research teams and the results are conflicting [13][14][15][16][17][18][19][20][21][22].…”
Section: Introductionmentioning
confidence: 99%
“…Les 41patients restant ne portent aucune mutation ni sur le gène RLDL ni sur le gène APOB ou le gène PCSK9 [30]. La contribution de génotype de l'apoE dans le métabolisme des lipides et le risque des maladies cardiovasculaire est étudié précédent [19, 20]. Pour clarifier la contribution des génotypes de l'apoE dans le profile lipidique et clinique (maladies cardiovasculaires et xanthomes) chez ces 41 patients, nous avons analysé de génotype de l'apoE.…”
Section: Résultatsunclassified
“…L′effet de génotype de l′apo E sur des concentrations lipidiques [720] et le risque coronaire [8, 9, 12, 14, 19] chez les sujets dislipémiques a été précédemment étudié avec des résultats variables [21]. A notre connaissance, aucune étude n'est réalisée au nord du Maroc pour déterminer la fréquence des allèles de l'apoE et leur effet sur le profile lipidique de cette population.…”
Section: Introductionunclassified