1998
DOI: 10.1161/01.atv.18.2.309
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Phenotypic Variation in Heterozygous Familial Hypercholesterolemia

Abstract: Abstract-Familial hypercholesterolemia (FH) is caused by mutations in the LDL receptor (LDLR)

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Cited by 122 publications
(45 citation statements)
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“…A systematic study of these factors in the main clusters of our series is now in progress. Our preliminary dietary survey, however, has failed to show striking differences in dietary habits (in terms of total and saturated fat consumption) similar in magnitude to that reported in the study of Pimstone et al 50 A recent comparison (1994 to 1996) of dietary habits between northern Italy (where, according to tradition, the diet is presumed to contain more meat and dairy products) and southern Italy (where a Mediterranean-type diet is presumed to be consumed) has revealed that the differences in total and saturated fat intake are fairly small (35% versus 33% and 13% versus 12%, respectively; A. D'Amicis and A. Turrini, National Institute for Food and Nutrition, personal communication, 2000).…”
Section: Interindividual Variability Of Ldl-c Levelsupporting
confidence: 73%
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“…A systematic study of these factors in the main clusters of our series is now in progress. Our preliminary dietary survey, however, has failed to show striking differences in dietary habits (in terms of total and saturated fat consumption) similar in magnitude to that reported in the study of Pimstone et al 50 A recent comparison (1994 to 1996) of dietary habits between northern Italy (where, according to tradition, the diet is presumed to contain more meat and dairy products) and southern Italy (where a Mediterranean-type diet is presumed to be consumed) has revealed that the differences in total and saturated fat intake are fairly small (35% versus 33% and 13% versus 12%, respectively; A. D'Amicis and A. Turrini, National Institute for Food and Nutrition, personal communication, 2000).…”
Section: Interindividual Variability Of Ldl-c Levelsupporting
confidence: 73%
“…Therefore, apo E polymorphism explains only part of the large interindividual variability of plasma lipids and lipoproteins observed in each cluster of our series, thus suggesting the presence of other genetic and environmental factors. The important role played by environmental factors has emerged from a recent study by Pimstone et al, 50 who compared lipid values and the prevalence of CAD in FH Chinese subjects, with defined LDL-R gene mutations, living in China and Canada. Higher LDL-C levels (and a higher prevalence of tendon xanthomas and CAD), not accounted for by an effect of the LDL-R gene mutation, were observed in FH heterozygotes living in Canada than in those living in China.…”
Section: Interindividual Variability Of Ldl-c Levelmentioning
confidence: 99%
“…Because the p.Arg406Thr variant retains 60% activity, it can be considered a mild mutation, and the variation in the phenotype of carriers can be attributed to environmental factors that are known to affect the phenotype, even in patients with FH. 30 The cutoff value for determining whether an LDLR variant is considered a functional mutant by in vitro studies has not been established, but, based on several published studies, 1,27,29,[31][32][33] in vitro LDLR activity less than 70-80% (either in expression, binding, or internalization), corresponding to 85-90% total LDLR activity, could classify a variant as pathogenic.…”
Section: Discussionmentioning
confidence: 99%
“…It should be noted that interaction with other genes 41 and environmental factors 42 could also influence the phenotype in FH patients. Pimstone et al 42 have demonstrated that Chinese FH heterozygotes living in Canada exhibit a similar phenotype to that of other FH patients from Western societies, and different to those living in China. Leitersdorf et al 43 have shown the important effect of environmental factors like diet, physical activity, weight and others on the lipid phenotype in FH patients.…”
Section: Discussionmentioning
confidence: 99%