2004
DOI: 10.1136/jmg.2004.018085
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Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome

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Cited by 79 publications
(63 citation statements)
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“…In addition, activity of sonic hedgehog (SHH) proteins, which are responsible for the development of the central nervous system (13)(14)(15), is determined by covalent modification with cholesterol and other lipids (16). During organogenesis, the embryo is reliant on maternal sources of cholesterol until its liver is sufficiently mature for synthesis (4,17). Our data show that the human yolk sac contains abundant mRNAs encoding multiple apolipoproteins, the cholesterol efflux transporter ABCA1, and lipoprotein receptors, including megalin and cubilin (18), albeit at lower levels (Fig.…”
Section: Significancementioning
confidence: 99%
“…In addition, activity of sonic hedgehog (SHH) proteins, which are responsible for the development of the central nervous system (13)(14)(15), is determined by covalent modification with cholesterol and other lipids (16). During organogenesis, the embryo is reliant on maternal sources of cholesterol until its liver is sufficiently mature for synthesis (4,17). Our data show that the human yolk sac contains abundant mRNAs encoding multiple apolipoproteins, the cholesterol efflux transporter ABCA1, and lipoprotein receptors, including megalin and cubilin (18), albeit at lower levels (Fig.…”
Section: Significancementioning
confidence: 99%
“…Maternal, but not fetal, APOE2 allele genotype was associated with a poorer clinical severity score. However, in one case, where the mother was homozygous for APOE2, severity score of the patient was lower, suggesting this effect is not dose dependent [11]. Additionally, given the significant possible errors that can occur when the sample size used in genetic polymorphism association studies is low [31,32], the role of maternal APOE status affecting clinical severity in SLOS should be regarded as probable, but not proven [32].…”
Section: Discussionmentioning
confidence: 99%
“…One candidate is therefore the APOE locus, either by its effects directly in the developing fetus, on fetal lipoprotein metabolism, or by affecting maternal cholesterol levels and materno-fetal lipoprotein metabolism [19,20]. A recent study has implicated maternal APOE variations as determinants of severity in SLOS [11]. Maternal, but not fetal, APOE2 allele genotype was associated with a poorer clinical severity score.…”
Section: Discussionmentioning
confidence: 99%
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“…12 Previous studies have shown a correlation of SLOS severity with DHCR7 genotype and maternal ApoE genotype, but a large part of the clinical variability remains unexplained. 3,13 We have now investigated genes involved in lipid metabolism and transport as candidate modifiers of the clinical severity of SLOS. These include ApoC-III, lecithin-cholesterol acyltransferase (LCAT), cholesteryl-ester transfer protein (CETP), 14 and ATP-binding cassette transporter A1 (ABCA1).…”
Section: Introductionmentioning
confidence: 99%