Founder effects facilitate the use of a genotyping‐based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia

To investigate whether genotyping could be used as a cost‐effective screening step, preceding next‐generation sequencing (NGS), in molecular diagnosis of familial hypercholesterolaemia (FH) in Swedish patients.

[1]  A. Wiegman,et al.  20-Year Follow-up of statins in children with familial hypercholesterolemia , 2020 .

[2]  J. Brandts,et al.  Familial hypercholesterolemia: is it time to separate monogenic from polygenic familial hypercholesterolemia? , 2020, Current opinion in lipidology.

[3]  J. C. Wolters,et al.  Taking One Step Back in Familial Hypercholesterolemia , 2020, Arteriosclerosis, thrombosis, and vascular biology.

[4]  S. Yamashita,et al.  Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care , 2020, Nature Reviews Cardiology.

[5]  C. Aguilar-Salinas,et al.  Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action. , 2020, JAMA cardiology.

[6]  J. Car,et al.  Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). , 2018, Atherosclerosis.

[7]  M. Eriksson,et al.  Genetic testing for familial hypercholesterolemia among survivors of acute coronary syndrome , 2018, Journal of internal medicine.

[8]  R. Hegele,et al.  The complex molecular genetics of familial hypercholesterolaemia , 2018, Nature Reviews Cardiology.

[9]  F. Domínguez,et al.  Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome. , 2017, Journal of the American College of Cardiology.

[10]  S. Humphries,et al.  Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK , 2017, European heart journal.

[11]  M. Cuchel,et al.  Improving the yield of genetic testing in familial hypercholesterolaemia , 2016, European heart journal.

[12]  Johannes B. Reitsma,et al.  Selection of individuals for genetic testing for familial hypercholesterolaemia: development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia , 2016, European heart journal.

[13]  S. Humphries,et al.  The UCL low-density lipoprotein receptor gene variant database: pathogenicity update , 2016, Journal of Medical Genetics.

[14]  G. Watts,et al.  Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. , 2016, European heart journal.

[15]  J. Borén,et al.  Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment , 2015, European heart journal.

[16]  Gerald F. Watts,et al.  Homozigot ailevi hiperkolesterolemi: klinisyenlerin taniyi ve klinik yönetimi gelistirmelerine yönelik yeni anlayislar ve rehberlik. Avrupa Ateroskleroz Dernegi'nin Ailevi Hiperkolesterolemi Üzerine Uzlasi Paneli yazili görüsü. , 2015 .

[17]  V. Salomaa,et al.  Prevalence and clinical correlates of familial hypercholesterolemia founder mutations in the general population. , 2015, Atherosclerosis.

[18]  Catherine Boileau,et al.  Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease , 2013, European heart journal.

[19]  Sonia Shah,et al.  Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study , 2013, The Lancet.

[20]  Kamila Czene,et al.  Swedish Population Substructure Revealed by Genome-Wide Single Nucleotide Polymorphism Data , 2011, PloS one.

[21]  C. Lindgren,et al.  Population Structure in Contemporary Sweden—A Y‐Chromosomal and Mitochondrial DNA Analysis , 2009, Annals of human genetics.

[22]  Stefan Schreiber,et al.  Genome-Wide Analysis of Single Nucleotide Polymorphisms Uncovers Population Structure in Northern Europe , 2008, PloS one.

[23]  K. Brusgaard,et al.  Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia , 2006, Clinical genetics.

[24]  P. Nilsson-ehle,et al.  An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia , 1995, Human Genetics.

[25]  M. Eriksson,et al.  Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene. , 2002, Atherosclerosis.

[26]  P. Kovanen,et al.  Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences , 2001, Annals of medicine.

[27]  C. Cantor,et al.  Automated genotyping using the DNA MassArray technology. , 2001, Methods in molecular biology.

[28]  M. Eriksson,et al.  Low frequency of the common Norwegian and Finnish LDL‐receptor mutations in Swedish patients with familial hypercholesterolaemia , 1998, Journal of internal medicine.

[29]  S. Tonstad,et al.  Molecular genetics of familial hypercholesterolaemia in Norway , 1997, Journal of internal medicine.

[30]  A. Miserez,et al.  Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. , 1995, Arteriosclerosis, thrombosis, and vascular biology.