- •156 patients with FH receiving atorvastatin were followed for 12 months.
- •The presence and type of LDLR mutations influence response to lipid-lowering therapy.
- •More aggressive treatment should be practiced in FH patients with an LDLR mutation.
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
- Familial hypercholesterolemia: current treatment and advances in management.Expert Rev Cardiovasc Ther. 2008; 6: 567-581
- Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands.Atherosclerosis. 2010; 209: 189-194
- Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R).Clin Res Cardiol Suppl. 2012; 7: 2-6
- Familial hypercholesterolemia and response to statin therapy according to LDLR genetic background.Clin Chem Lab Med. 2005; 43: 793-801
- The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.Annu Rev Genet. 1990; 24: 133-170
- Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia.Pharmacogenet Genomics. 2005; 15: 219-225
- Efficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90,056 participants in 14 randomised trials of statins.Lancet. 2005; 366: 1267-1278
- The genetics of statin-induced myopathy.Atherosclerosis. 2010; 210: 337-343
- Arq Bras Cardiol. 2013; 99: 1-28
- Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European atherosclerosis society.Eur Heart J. 2013, Aug 15; ([Epub ahead of print])
- Heterozygous familial hypercholesterolemia in children: low-density lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations.Atherosclerosis. 1996; 126: 163-171
- 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. 1998; 136: 175-185
- Similar response to simvastatin in patients heterozygous for familial hypercholesterolemia with mRNA negative and mRNA positive mutations.Atherosclerosis. 1998; 136: 247-254
- Influence of specific mutations at the LDL-receptor gene locus on the response to simvastatin therapy in Afrikaner patients with heterozygous familial hypercholesterolaemia.Atherosclerosis. 1993; 98: 51-58
- The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia.Atherosclerosis. 1999; 143: 41-54
- Association of specific LDL receptor gene mutations with differential plasma lipoprotein response to simvastatin in young French Canadians with heterozygous familial hypercholesterolemia.Arterioscler Thromb Vasc Biol. 1998; 18: 1007-1012
- Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol.J Clin Endocrinol Metab. 2001; 86: 4926-4932
- Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.Arterioscler Thromb Vasc Biol. 2000; 20: E41-E52
- SLCO1B1 haplotypes are not associated with atorvastatin-induced myalgia in Brazilian patients with familial hypercholesterolemia.Eur J Clin Pharmacol. 2012 Mar; 68: 273-279
- Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics.Am J Cardiol. 1993; 72: 171-176
- SLCO1B1 variants and statin-induced myopathy–a genomewide study.N Engl J Med. 2008; 359: 789-799
- Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors.Atherosclerosis. 2008; 200: 315-321
- Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia.Arterioscler Thromb Vasc Biol. 1999; 19: 408-418
- Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.Hum Mutat. 1992; 1: 445-466
- Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.Ann Hum Genet. 2008; 72: 485-498
- Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.Hum Mutat. 2004; 24: 187
- Genetic determinants of responsiveness to the HMG-CoA reductase inhibitor fluvastatin in patients with molecularly defined heterozygous familial hypercholesterolemia.Circulation. 1993; 87: III35-III44
- Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART).Lipids Health Dis. 2011; 10: 94
- Influence of LDL receptor gene mutation and apo E polymorphism on lipoprotein response to simvastatin treatment among adolescents with heterozygous familial hypercholesterolemia.Atherosclerosis. 2002; 160: 361-368
- APOE polymorphism is associated with lipid profile, but not with arterial stiffness in the general population.Lipids Health Dis. 2010; 9: 128
- Organic anion transporting polypeptide 1B1: a genetically polymorphic transporter of major importance for hepatic drug uptake.Pharmacol Rev. 2011; 63: 157-181
- Ethnicity and arterial stiffness in Brazil.Am J Hypertens. 2011; 24: 278-284
- SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group.BMC Med Genet. 2011; 12: 136