2003
DOI: 10.1172/jci200318925
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Monogenic hypercholesterolemia: new insights in pathogenesis and treatment

Abstract: Familial hypercholesterolemiaHistorical perspective. Familial hypercholesterolemia (FH), the most common and most severe form of monogenic hypercholesterolemia, was the first genetic disease of lipid metabolism to be clinically and

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Cited by 435 publications
(108 citation statements)
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“…Similar findings were observed for 10 loci for LDL-C, 3 loci for TG and for 9 loci in TC. 24 It is already known that monogenic disorders 25 and rare variants also account for variation in circulating lipid levels. [26][27][28][29][30][31][32] This may help to explain why the explained variance is small compared with the high heritability of the traits, especially as many rarer variants are population specific, and might not have been well represented in our European data set, or not well tagged by the common SNPs under study.…”
Section: Discussionmentioning
confidence: 99%
“…Similar findings were observed for 10 loci for LDL-C, 3 loci for TG and for 9 loci in TC. 24 It is already known that monogenic disorders 25 and rare variants also account for variation in circulating lipid levels. [26][27][28][29][30][31][32] This may help to explain why the explained variance is small compared with the high heritability of the traits, especially as many rarer variants are population specific, and might not have been well represented in our European data set, or not well tagged by the common SNPs under study.…”
Section: Discussionmentioning
confidence: 99%
“…Table S9 lists the 11 volunteers who had no apparent disease but had a positive family history of tachycardia, sudden death, and CAD and carried risk alleles. We provide this experience to broaden alertness to both genetic causation and risk of disease for adult-onset cardiovascular disease (58). Of the alleles listed in Tables S8 and S9, 13 alleles were found in HGMD (13,14).…”
Section: Incorporation Of Three-generation Pedigrees Into the Geneticmentioning
confidence: 98%
“…The clinical phenotype of these subjects is indistinguishable from two other autosomal dominant forms of hypercholesterolemia, both of which are caused by defective receptor-mediated clearance of LDL: (i) familial hypercholesterolemia, which is caused by mutations in the LDLR; and (ii) familial defective apolipoprotein B (apoB), caused by mutations in the ligand for the LDLR (13). This similarity raised the possibility that PCSK9 somehow lowers the amount or activity of LDLRs in liver.…”
mentioning
confidence: 99%