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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1
European Journal of Human Genetics, Volume 18, No. 11, Year 2010
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Description
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. © 2010 Macmillan Publishers Limited All rights reserved.
Authors & Co-Authors
Marques-Pinheiro, Alice
France, Paris
Inserm
Marduel, Marie
France, Paris
Inserm
Rabès, Jean Pierre H.
France, Paris
Inserm
France, Boulogne-billancourt
Hopital Ambroise Pare, Boulogne-billancourt
Devillers, Martine
France, Paris
Inserm
Villéger, Ludovic
France, Paris
Inserm
Allard, Delphine
France, Paris
Inserm
Weissenbach, Jean S.
France, Evry
Genoscope - Centre National de Séquençage
Guérin, Maryse
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Zaïr, Yassine
France, Nantes
L'institut du Thorax
Erlich, Danièle
France, Paris
Inserm
Junien, Claudine
France, Paris
Inserm
Münnich, Arnold
France, Paris
Inserm
Krempf, Michael A.
France, Nantes
L'institut du Thorax
Abifadel, Marianne S.
France, Paris
Inserm
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Jaïs, Jean Philippe
France, Paris
Hôpital Necker Enfants Malades
Boileau, Catherine R.
France, Paris
Inserm
France, Boulogne-billancourt
Hopital Ambroise Pare, Boulogne-billancourt
Varret, Mathilde
France, Paris
Inserm
Statistics
Citations: 35
Authors: 17
Affiliations: 7
Identifiers
Doi:
10.1038/ejhg.2010.94
ISSN:
10184813
e-ISSN:
14765438
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Noncommunicable Diseases