A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22
Abstract
Molecular testing of patients with autosomal dominant hypercholesterolemia (ADH) fails to detect a causal functional mutation in 15.25% of subjects. We studied an ADH pedigree in which known ADH-causing genes (LDLR, APOB and PCSK9) were excluded. Genome-wide analysis on 15 family members detected significant association for ADH and dbSNP RS ID rs965814 (G/A), located in 8q24.22 cytoband. ADH was significantly associated to rs965814 G allele (p < 0.05) in a case-control study based on 200 unrelated ADH subjects without LDLR or APOB gene defects and 198 normolipidemic controls. We chose 24 markers for a detailed analysis of 8q24.22 cytoband, now based on an extended set of family members (21 individuals). One particular 24 marker haplotype was significantly associated to both higher total and low-density lipoprotein-cholesterol concentrations. Similar results were found for a shorter haplotype, composed of the distal six markers from the complete haplotype. Therefore, a presumptive new locus for ADH could be located in 8q24.22 cytoband, a region not previously linked or associated to ADH.
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New ADH loci were recently mapped at 16q22.1 (HCHOLA4) and 8q24.22.
“new ADH loci were recently mapped at 16q22.1, HCHOLA4 (Marques-Pinheiro A et al. 2010), and 8q24.22 (Cenarro A et al. 2011).”
From Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the<i>APOE</i>p.Leu167del Mutation (2013) · cites this paper as Cenarro A et al. 2011
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Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population.
(1995) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a040269 · Cited by 1,950 · see citing works
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APOE gene variants in primary dyslipidemia
Khalil, Y. A., Rabès, J.-P., Boileau, C., & Varret, M. (2021) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2021.05.007 · Cited by 170 · see citing works
Marduel, M., Ouguerram, K., Serre, V., Bonnefont-Rousselot, D., Marques-Pinheiro, A., Erik Berge, K., Devillers, M., Luc, G., Lecerf, J.-M., Tosolini, L., et al. (2013) · Human Mutation · doi:10.1002/humu.22215 · Cited by 133 · see citing works
Cenarro, A., Etxebarria, A., de Castro-Orós, I., Stef, M., Bea, A. M., Palacios, L., Mateo-Gallego, R., Benito-Vicente, A., Ostolaza, H., Tejedor, T., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3874 · Cited by 100 · see citing works
Self-citation
- Authors
- Cenarro, A., García-Otín, A.-L., Tejedor, M., Solanas, M., Jarauta, E., Junquera, C., Ros, E., Mozas, P., Puzo, J., Pocoví, M., & Civeira, F.
- Affiliations
- Hospital Universitario Miguel Servet (ES)
- Instituto de Salud Carlos III (ES)
- Universidad de Zaragoza (ES)
- Hospital General San Jorge (ES)
- Corresponding author
- Civeira, F
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2011-04-07
- Volume
- 79
- Issue
- 5
- Pages
- 475-481
- ISSN
- 0009-9163 (ISSN-L)
- OpenAlex
- W2073224550
- Cited by
- 25
- References
- 1
- Citations by year
- 2023: 1 · 2022: 2 · 2021: 1 · 2020: 1 · 2016: 4 · 2015: 1 · 2014: 4 · 2013: 4 · 2012: 3
- FWCI
- 3.71
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Keywords
- autosomal dominant hypercholesterolemia, genetic linkage, genetic association, LDL receptor, apolipoprotein B, PCSK9, LDL cholesterol, haplotype analysis, familial hypercholesterolemia
- MeSH terms
- Adult, Chromosome Mapping, Chromosomes, Human, Pair 8, Female, Haplotypes, Humans, Hyperlipoproteinemia Type II, Male, Mutation, Pedigree, Case-Control Studies, Genetic Loci
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