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Genetic testing for familial hypercholesterolemia—past, present, and future

Journal of lipid research, 2021-01, Vol.62, p.100139-100139, Article 100139

2021

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Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK

European heart journal, 2017-06, Vol.38 (23), p.1832-1839

2017

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Universal screening at age 1–2 years as an adjunct to cascade testing for familial hypercholesterolaemia in the UK: A cost-utility analysis

Atherosclerosis, 2018-08, Vol.275, p.434-443

2018

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Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

The Lancet (British edition), 2013-04, Vol.381 (9874), p.1293-1301

2013

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Improving identification of familial hypercholesterolaemia in primary care: Derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT)

Atherosclerosis, 2015-02, Vol.238 (2), p.336-343

2015

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IL-6 polymorphisms: a useful genetic tool for inflammation research?

The Journal of clinical investigation, 2013-04, Vol.123 (4), p.1413-1414

2013

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An analysis of drug modulation of abdominal aortic aneurysm growth through 25 years of surveillance

Journal of vascular surgery, 2010-07, Vol.52 (1), p.55-61.e2

2010

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Carotid plaque-thickness and common carotid IMT show additive value in cardiovascular risk prediction and reclassification

Atherosclerosis, 2017-08, Vol.263, p.412-419

2017

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Identification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD

PloS one, 2016-12, Vol.11 (12), p.e0167676-e0167676

2016

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Coronary heart disease mortality in severe vs. non-severe familial hypercholesterolaemia in the Simon Broome Register

Atherosclerosis, 2019-02, Vol.281, p.207-212

2019

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The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes

Clinical genetics, 2020-03, Vol.97 (3), p.457-466

2020

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Circulating Apolipoprotein E Concentration and Cardiovascular Disease Risk: Meta-analysis of Results from Three Studies

PLoS medicine, 2016-10, Vol.13 (10), p.e1002146-e1002146

2016

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Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

Annals of human genetics, 2012-09, Vol.76 (5), p.387-401

2012

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Analysis of the role of interleukin 6 receptor haplotypes in the regulation of circulating levels of inflammatory biomarkers and risk of coronary heart disease

PloS one, 2015-03, Vol.10 (3), p.e0119980-e0119980

2015

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Networks in Coronary Heart Disease Genetics As a Step towards Systems Epidemiology

PloS one, 2015-05, Vol.10 (5), p.e0125876-e0125876

2015

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Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis

Health technology assessment (Winchester, England), 2023-10, Vol.27 (16), p.1-140

2023

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LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank

Frontiers in genetics, 2022-03, Vol.13, p.845498-845498

2022

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Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population

PloS one, 2015-07, Vol.10 (7), p.e0130754

2015

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A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia

Atherosclerosis, 2003-05, Vol.168 (1), p.1-14

2003

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Cross-sectional analysis of baseline data to identify the major determinants of carotid intima–media thickness in a European population: the IMPROVE study

European heart journal, 2010-03, Vol.31 (5), p.614-622

2010

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Endothelial Nitric Oxide Synthase Gene Polymorphisms and Cardiovascular Disease: A HuGE Review

American journal of epidemiology, 2006-11, Vol.164 (10), p.921-935

2006

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Interleukin 18 and coronary heart disease: Prospective study and systematic review

Atherosclerosis, 2011-07, Vol.217 (1), p.227-233

2011

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Cholesteryl Ester Transfer Protein (CETP) polymorphisms affect mRNA splicing, HDL levels, and sex-dependent cardiovascular risk

PloS one, 2012-03, Vol.7 (3), p.e31930-e31930

2012

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Chromosome 9p21.3 Coronary Heart Disease Locus Genotype and Prospective Risk of CHD in Healthy Middle-Aged Men

Clinical chemistry (Baltimore, Md.), 2008-03, Vol.54 (3), p.467-474

2008

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Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease

Genetic testing for familial hypercholesterolemia—past, present, and future

Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK

Universal screening at age 1–2 years as an adjunct to cascade testing for familial hypercholesterolaemia in the UK: A cost-utility analysis

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

Improving identification of familial hypercholesterolaemia in primary care: Derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT)

IL-6 polymorphisms: a useful genetic tool for inflammation research?

An analysis of drug modulation of abdominal aortic aneurysm growth through 25 years of surveillance

Carotid plaque-thickness and common carotid IMT show additive value in cardiovascular risk prediction and reclassification

Identification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD

Coronary heart disease mortality in severe vs. non-severe familial hypercholesterolaemia in the Simon Broome Register

The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes

Circulating Apolipoprotein E Concentration and Cardiovascular Disease Risk: Meta-analysis of Results from Three Studies

Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

Analysis of the role of interleukin 6 receptor haplotypes in the regulation of circulating levels of inflammatory biomarkers and risk of coronary heart disease

Networks in Coronary Heart Disease Genetics As a Step towards Systems Epidemiology

Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis

LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank

Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population

A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia

Cross-sectional analysis of baseline data to identify the major determinants of carotid intima–media thickness in a European population: the IMPROVE study

Endothelial Nitric Oxide Synthase Gene Polymorphisms and Cardiovascular Disease: A HuGE Review

Interleukin 18 and coronary heart disease: Prospective study and systematic review

Cholesteryl Ester Transfer Protein (CETP) polymorphisms affect mRNA splicing, HDL levels, and sex-dependent cardiovascular risk

Chromosome 9p21.3 Coronary Heart Disease Locus Genotype and Prospective Risk of CHD in Healthy Middle-Aged Men

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