ArticleHuman genetics1992
Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians.
Article in Human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 64 citations in OpenAlex.
- Article
- Lipids, lipoproteins and prevalence of familial hypercholesterolemia in the Faroe Islands - Results from a nationwide laboratory database.Atherosclerosis plus · 2022Article
- HDL Receptor inFrontiers in cell and developmental biology · 2022Review
- Saudi Familial Hypercholesterolemia Patients With RareFrontiers in medicine · 2021Article
- The complex molecular genetics of familial hypercholesterolaemia.Nature reviews. Cardiology · 2019Review
- Growing Pains in Cardiovascular Genetics.Circulation · 2018Article
- HMGCR is a genetic modifier for risk, age of onset and MCI conversion to Alzheimer's disease in a three cohorts study.Molecular psychiatry · 2015Article
- Prevention of fatal hepatic complication in schistosomiasis by inhibition of CETP.Journal of biomedical research · 2015Review
- Familial hypercholesterolemia--epidemiology, diagnosis, and screening.Current atherosclerosis reports · 2015Review
- Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2011Article
- Schizophrenia, psychiatric genetics, and Darwinian psychiatry: an evolutionary framework.Schizophrenia bulletin · 2008Review
- Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.Proceedings of the National Academy of Sciences of the United States of America · 2007Article
- Evidence for a cholesterol-lowering gene in a French-Canadian kindred with familial hypercholesterolemia.Human genetics · 1995Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH), at a prevalence of about 1 in 200 in the French-Canadian population, is caused by a 10-kb deletion in the low-density lipoprotein (LDL) receptor gene in 60% of French-Canadian FH heterozygotes. We genotyped 159 FH patients who carry this common mutation and 221 healthy French-Canadian controls for five DNA restriction fragment length polymorphisms (RFLPs) of the LDL receptor gene. The allele numbers for four of the five RFLPs differed significantly (P less than 0.001) between FH patients and control subjects. Our results suggest that the 10-kb deletion carrier allele is associated with a single haplotype (called the B haplotype). In a family study including a patient homozygous for the 10-kb deletion, we showed that the B haplotype cosegregates with the deletion in affected members and that the B haplotype is also associated with the normal allele in some members of the family. We identified 15 different haplotypes for the normal allele in 10-kb deletion carrier FH heterozygotes. These results offer strong support, at a molecular level, for the hypothesis of a founder effect for the 10-kb deletion in the French-Canadian population.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.