ArticleNetherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation2011
Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.
Article in Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Update of the Brazilian Guideline for Familial Hypercholesterolemia - 2021.Arquivos brasileiros de cardiologia · 2021Guideline
- Trial
- Midterm Follow-Up of Familial Hypercholesterolemia from a Cross-Sectional School-Based Cholesterol Screening Program.Journal of pediatrics. Clinical practice · 2024Article
- Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia.Journal of human genetics · 2023Article
- A comparison of the Netherlands, Norway and UK familial hypercholesterolemia screening programmes with implications for target setting and the UK's NHS long term plan.PLOS global public health · 2023Article
- Saudi Familial Hypercholesterolemia Patients With RareFrontiers in medicine · 2021Article
- Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.Scientific reports · 2020Article
- Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.Molecular genetics & genomic medicine · 2019Article
- Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.Lipids in health and disease · 2018Article
- Article
- Genetic Architecture of Familial Hypercholesterolaemia.Current cardiology reports · 2017Review
- The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Identification and Treatment of Patients with Homozygous Familial Hypercholesterolaemia: Information and Recommendations from a Middle East Advisory Panel.Current vascular pharmacology · 2015Article
- Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.BMC cardiovascular disorders · 2014Article
- Familial hypercholesterolemia: developments in diagnosis and treatment.Deutsches Arzteblatt international · 2014Review
- The genetic spectrum of familial hypercholesterolemia in Pakistan.Clinica chimica acta; international journal of clinical chemistry · 2013Article
- Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.Cholesterol · 2013Article
- Homozygous familial hypercholesterolemia (HoFH) in Germany: an epidemiological survey.ClinicoEconomics and outcomes research : CEOR · 2013Article
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Authors and funding
7 authors.
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Abstract
backgroundIn the Netherlands, a screening programme was set up in 1994 in order to identify all patients with familial hypercholesterolaemia (FH). After 15 years of screening, we evaluated the geographical distribution, possible founder effects and clinical phenotype of the 12 most prevalent FH gene mutations.
methodsPatients who carried one of the 12 most prevalent mutations, index cases and those identified between 1994 and 2009 through the screening programme and whose postal code was known were included in the study. Low-density lipoprotein cholesterol (LDL-C) levels at the time of screening were retrieved. The prevalence of identified FH patients in each postal code area was calculated and visualised in different maps.
resultsA total of 10,889 patients were included in the study. Mean untreated LDL-C levels ranged from 4.4 to 6.4 mmol/l. For almost all mutations, a region of high prevalence could be observed. In total, 51 homozygous patients were identified in the Netherlands, of which 13 true homozygous for one of the 12 most prevalent mutations. The majority of them were living in high-prevalence areas for that specific mutation.
conclusionsPhenotypes with regard to LDL-C levels varied between the 12 most prevalent FH mutations. For most of these mutations, a founder effect was observed. Our observations can have implications with regard to the efficiency of molecular screening and physician's perception of FH and to the understanding of the prevalence and distribution of homozygous patients in the Netherlands.
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