Influence of genotype at the low density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolaemia. The Familial Hypercholesterolaemia Regression Study Group

Atherosclerosis
X M SunA K Soutar

Abstract

The relationship between molecular defect and clinical phenotype has been examined in 42 patients with heterozygous familial hypercholesterolaemia (FH) and premature coronary heart disease. The defined defects included mutations in the low density lipoprotein (LDL)-receptor gene (23/42) or the apolipoprotein B Arg3500Gln mutation (5/42). Mean LDL-cholesterol was higher, both before and during treatment with simvastatin and bile acid sequestrants, in patients predicted as having a 'severe' mutation than in those with a 'mild' mutation (8.72 +/- 2.02 mmol/l vs 6.63 +/- 1.8, P = 0.05 before and 4.51 +/- 0.90 mmol/l vs 3.19 +/- 0.58, P = 0.05 during treatment). Maximum inducible LDL-receptor activity in cultured lymphoblasts was inversely correlated with LDL-cholesterol before (r2 = 0.499, P = 0.002) and during (r2 = 0.478, P = 0.004) treatment in patients with a defined mutation in the LDL-receptor gene, but not in the 14 patients with no detectable molecular defect. LDL-cholesterol concentrations before and during treatment were significantly correlated in patients with a defined LDL-receptor gene mutation (r2 = 0.548, P = 0.0001), but not in those with no detectable genetic defect. All these correlations were weak, however and t...Continue Reading

References

Jan 1, 1992·Human Mutation·H H HobbsJ L Goldstein
Aug 1, 1995·Arteriosclerosis, Thrombosis, and Vascular Biology·S TonstadL Ose
Nov 1, 1993·Arteriosclerosis and Thrombosis : a Journal of Vascular Biology·P V KoivistoK Kontula
Oct 1, 1993·Arteriosclerosis and Thrombosis : a Journal of Vascular Biology·M J KotzeG A Coetzee

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Citations

Jan 4, 2006·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Steve E HumphriesAnthony S Wierzbicki
Sep 6, 2003·Lancet·Paul Durrington
Jul 17, 2001·Clinical Genetics·J U Brorholt-PetersenO Faergeman
Feb 13, 2001·European Journal of Clinical Investigation·C A Dane-StewartT G Redgrave
Aug 3, 2002·European Journal of Clinical Investigation·C A Dane-StewartT G Redgrave
Sep 18, 1998·Current Opinion in Lipidology·P NichollsC A Graham
Dec 17, 2004·Human Genomics·Jose M Ordovas
Oct 6, 2005·Clinical Chemistry and Laboratory Medicine : CCLM·Despoina M Choumerianou, George V Z Dedoussis
Apr 23, 2004·Pharmacogenomics·Jan W A Smit, Michaela Diamant
Dec 31, 2010·Vascular Health and Risk Management·Mohammad Hassan Nemati, Behrooz Astaneh
Jun 4, 2015·European Journal of Human Genetics : EJHG·Ingrid BrænneHeribert Schunkert
Sep 10, 2010·International Journal of Cardiology·Genovefa D KolovouKatherine K Anagnostopoulou
Nov 4, 2004·Human Mutation·George V Z DedoussisJanine Genschel
Oct 3, 2015·Pharmacogenomics·Paulo Caleb Junior Lima Santos, Alexandre Costa Pereira
Jun 18, 2004·European Journal of Clinical Investigation·G V Z DedoussisC Stefanadis
Oct 27, 2005·Human Mutation·Sigrid W FouchierJoep C Defesche
Jan 25, 2011·Clinica Chimica Acta; International Journal of Clinical Chemistry·Vladimír SoskaRichard Ceska
May 21, 2004·Expert Review of Cardiovascular Therapy·Alpo F VuorioHelena Gylling
May 23, 2001·Arteriosclerosis, Thrombosis, and Vascular Biology·F H O'NeillR P Naoumova
Jan 4, 2003·Stroke; a Journal of Cerebral Circulation·R R HuxleyUNKNOWN Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee
Jun 20, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ruben L OsnabruggeA Cecile J W Janssens
Nov 8, 2019·The Cochrane Database of Systematic Reviews·Alpo VuorioUma Ramaswami
Jul 8, 2017·The Cochrane Database of Systematic Reviews·Alpo VuorioUma Ramaswami
Aug 12, 2019·The Protein Journal·Sureerut Porntadavity, Nutjaree Jeenduang
Aug 3, 2019·Journal of Clinical Lipidology·Chiara PavanelloRosellina Margherita Mancina

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