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Nutrition, Metabolism & Cardiovascular Diseases
Volume 20, Issue 4
, Pages 236-242
, May 2010
An NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia
References
- . Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D editor. 8th ed. The metabolic and molecular basis of inherited disease. vol. 2:New York: McGraw-Hill; 2001;p. 2863–2913
- Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet. 2003;34:154–156
- . Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat. 2005;26:550–556
- . New insights into the genetic regulation of intestinal cholesterol absorption. Gastroenterology. 2005;129:718–734
- . Cholesterol absorption efficiency regulates plasma cholesterol level in the Finnish population. Eur J Clin Invest. 1987;17:391–395
- Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes. J Clin Endocrinol Metab. 2007;92:3667–3673
- Niemann–Pick C1 Like 1 protein is critical for intestinal cholesterol absorption. Science. 2004;303:1201–1204
- Niemann–Pick C1 Like 1 (NPC1L1) is the intestinal phytosterol and cholesterol transporter and a key modulator of whole-body cholesterol homeostasis. J Biol Chem. 2004;279:33586–33592
- . Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia. J Biol Chem. 2005;280:12710–12720
- . Evidence for a Niemann–Pick C (NPC) gene family: identification and characterization of NPC1L1. Genomics. 2000;65:137–145
- Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci U S A. 2006;103:1810–1815
- Lipid profile of the Spanish population: the DRECE (diet and risk of cardiovascular disease in Spain) study. Med Clin. 1999;113:730–735
- Ultrasonography for the evaluation of visceral fat and the metabolic syndrome. Metabolism. 2005;54:1230–1235
- . Serum plant sterols and cholesterol precursors reflect cholesterol absorption and synthesis in volunteers of a randomly selected male population. Am J Epidemiol. 1990;131:20–31
- Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia. Clin Chem. 2005;51:1137–1144
- Sequence variation in NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment. Genomics. 2005;86:648–656
- . A mutation (−49C>T) in the promoter of the low density lipoprotein receptor gene associated with familial hypercholesterolemia. J Lipid Res. 2002;43:13–18
- . Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol. 1995;12:921–927
- . Accounting for decay of linkage disequilibrium in haplotype inference and missing data imputation. Am J Hum Genet. 2005;76:449–462
- . MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res. 1995;23:4878–4884
- . Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes. Hum Mol Genet. 2008;17:2101–2107
- . Physiological and therapeutic factors affecting cholesterol metabolism: does a reciprocal relationship between cholesterol absorption and synthesis really exist?. Life Sci. 2007;80:505–514
- Cholesterol-regulated translocation of NPC1L1 to the cell surface facilitates free cholesterol uptake. J Biol Chem. 2006;281:6616–6624
- Hepatic Niemann–Pick C1-like 1 regulates biliary cholesterol concentration and is a target of ezetimibe. J Clin Invest. 2007;117:1968–1978
- . Active repression by unliganded retinoid receptors in development: less is sometimes more. J Cell Biol. 2003;161:223–228
- . Polymorphisms affecting gene regulation and mRNA processing: broad implications for pharmacogenetics. Pharmacol Ther. 2005;106:19–38
- A functional mutation in the LDLR promoter (−139C>G) in a patient with familial hypercholesterolemia. Eur J Hum Genet. 2007;15:1186–1189
- . DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding. Hum Genet. 2002;111:66–74
- Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia. Am J Cardiol. 2008;102:1187–1193
- Hyperlipoproteinaemia(a) is a common cause of autosomal dominant hypercholesterolaemia. J Inherit Metab Dis. 2007;30:970–977
PII: S0939-4753(09)00081-7
doi: 10.1016/j.numecd.2009.03.023
© 2009 Elsevier B.V. All rights reserved.
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Nutrition, Metabolism & Cardiovascular Diseases
Volume 20, Issue 4
, Pages 236-242
, May 2010
