Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia
| Autor: | Pilar Galan, Pierre-François Plouin, Xavier Jeunemaitre, Soto Romuald Kiando, Nabila Bouatia-Naji, Daniele Cusi, Mark Lathrop, Cristina Barlassina |
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| Přispěvatelé: | Institut National de la Santé et de la Recherche Médicale (INSERM), PRES Sorbonne Paris Cité, Università degli Studi di Milano [Milano] (UNIMI), Consiglio Nazionale delle Ricerche (CNR), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de Génotypage (CNG), Département Hypertension, Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Univ Paris 05, PRES Sorbonne Paris Cite, Paris, France, Partenaires INRAE, INSERM, Paris Cardiovasc Res Ctr PARCC UMR970, F-75015 Paris, France, Italian joint agency grant (INTEROMICS PB05-MIUR-CNR Italian Flagship Project), French National research agency [ANR GDPM2, ANR-13-ISV1-0006-0], National French clinical grant (PHRC ARCADIA-PROFILE), Fondation pour la recherche Medicale support (FRM MEDYA), European Project: 201550,EC:FP7:HEALTH,FP7-HEALTH-2007-A,HYPERGENES(2008), Università degli Studi di Milano = University of Milan (UNIMI), National Research Council of Italy | Consiglio Nazionale delle Ricerche (CNR) |
| Rok vydání: | 2015 |
| Předmět: |
Cytoplasmic Dyneins
Pathology medicine.medical_specialty Genotype Physiology [SDV]Life Sciences [q-bio] Ubiquitin-Protein Ligases Fibromuscular dysplasia Protein Serine-Threonine Kinases whole exome sequencing Genetic Heterogeneity Internal Medicine Medicine Fibromuscular Dysplasia Humans Exome cardiovascular diseases Stroke Myosin-Light-Chain Kinase Exome sequencing Genetic Association Studies Genetic association Aged Adenosine Triphosphatases Renal ischemia business.industry Genetic heterogeneity Vascular disease Calcium-Binding Proteins Sequence Analysis DNA Middle Aged medicine.disease 3. Good health Stenosis Case-Control Studies cardiovascular system Female gene-based association test Cardiology and Cardiovascular Medicine business Rho Guanine Nucleotide Exchange Factors |
| Zdroj: | Journal of Hypertension Journal of Hypertension, Lippincott, Williams & Wilkins, 2015, 33 (9), pp.1802-1810. ⟨10.1097/HJH.0000000000000625⟩ Journal of hypertension 33 (2015): 1802–1810. doi:10.1097/HJH.0000000000000625 info:cnr-pdr/source/autori:Kiando, Soto Romuald; Barlassina, Cristina; Cusi, Daniele; Galan, Pilar; Lathrop, Mark; Plouin, Pierre-Francois; Jeunemaitre, Xavier; Bouatia-Naji, Nabila/titolo:Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia/doi:10.1097%2FHJH.0000000000000625/rivista:Journal of hypertension/anno:2015/pagina_da:1802/pagina_a:1810/intervallo_pagine:1802–1810/volume:33 Journal of Hypertension, 2015, 33 (9), pp.1802-1810. ⟨10.1097/HJH.0000000000000625⟩ |
| ISSN: | 1473-5598 0263-6352 |
| DOI: | 10.1097/HJH.0000000000000625⟩ |
| Popis: | International audience; Background: Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, aneurysm and dissection, mainly of renal arteries and carotids. FMD occurs predominantly in women with nearly four out of 1000 prevalence and cause hypertension, renal ischemia or stroke. The pathogenesis of FMD is unknown and a genetic origin is suspected given its demonstrated familial aggregation. Method: We performed whole exome sequencing (WES) in 16 cases (seven families). Coding variants in 3971 genes were prioritized on frequency (minor allele frequency |
| Databáze: | OpenAIRE |
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