ArticleEuropean journal of human genetics : EJHG2010
A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 40 citations in OpenAlex.
- Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.International journal of molecular sciences · 2023Review
- Genetic and molecular architecture of familial hypercholesterolemia.Journal of internal medicine · 2023Review
- Review
- Use of plasma metabolomics to analyze phenotype-genotype relationships in young hypercholesterolemic females.Journal of lipid research · 2018Article
- Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.Lipids in health and disease · 2017Review
- Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.Journal of lipid research · 2016Article
- Genetics of familial hypercholesterolemia.Current atherosclerosis reports · 2015Review
- Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process.BioMed research international · 2015Review
- Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.Journal of medical genetics · 2014Article
- Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.Current genomics · 2013Article
- Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.Human mutation · 2013Article
- Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure.Oman medical journal · 2013Article
- Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients.Molecular biology reports · 2012Article
- Annexin A2 is a natural extrahepatic inhibitor of the PCSK9-induced LDL receptor degradation.PloS one · 2012Article
- Molecular spectrum of autosomal dominant hypercholesterolemia in France.Human mutation · 2010Article
Corrections and comments
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Authors and funding
18 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant hypercholesterolemia (ADH) is characterized by isolated increase in plasmatic low-density lipoprotein (LDL) cholesterol levels associated with high risk of premature cardiovascular disease. Mutations in LDLR, APOB, and PCSK9 genes have been shown to cause ADH. We now report further genetic heterogeneity of ADH through the study of a large French family in which the involvement of these three genes was excluded. A genome-wide scan mapped the disease-causing gene, named HCHOLA4, at 16q22.1 in a 7.89-Mb interval containing 154 genes with a maximum LOD score of 3.9. To reduce the linked region, we genotyped 18 smaller non-LDLR/non-APOB/non-PCSK9-ADH families at the HCHOLA4 locus. Six families did not exclude linkage to the locus, but none allowed reduction of the disease interval. The 154 regional genes were sorted according to the function of the encoded protein and tissue expression profiles, and 57 genes were analyzed through sequencing of their coding region and close flanking intronic parts. No disease-causing mutation was identified in these families, particularly in the LCAT gene. Finally, our results also show the existence of other ADH genes as nine families were neither linked to LDLR, APOB, and PCSK9 genes nor to the new HCHOLA4 locus.
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