An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate (Articolo in rivista)

Type
Label
  • An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate (Articolo in rivista) (literal)
Anno
  • 2015-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/s10048-014-0425-x (literal)
Alternative label
  • Quadri, M.; Yang, X.; Cossu, G.; Olgiati, S.; Saddi, V.; Breedveld, G. J.; Ouyang, L.; Hu, J.; Xu, N.; Graafland, J.; Ricchi, V.; Murgia, D.; Guedes, L. Correia; Mariani, C.; Marti, M. J.; Tarantino, P.; Asselta, R.; Valldeoriola, F.; Gagliardi, M.; Pezzoli, G.; Ezquerra, M.; Quattrone, A.; Ferreira, J.; Annesi, G.; Goldwurm, S.; Tolosa, E.; Oostra, B. A.; Melis, M.; Wang, J.; Bonifati, V. (2015)
    An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate
    in Movement disorders
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Quadri, M.; Yang, X.; Cossu, G.; Olgiati, S.; Saddi, V.; Breedveld, G. J.; Ouyang, L.; Hu, J.; Xu, N.; Graafland, J.; Ricchi, V.; Murgia, D.; Guedes, L. Correia; Mariani, C.; Marti, M. J.; Tarantino, P.; Asselta, R.; Valldeoriola, F.; Gagliardi, M.; Pezzoli, G.; Ezquerra, M.; Quattrone, A.; Ferreira, J.; Annesi, G.; Goldwurm, S.; Tolosa, E.; Oostra, B. A.; Melis, M.; Wang, J.; Bonifati, V. (literal)
Pagina inizio
  • S60 (literal)
Pagina fine
  • S60 (literal)
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  • 29 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 1 (literal)
Note
  • PubMe (literal)
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1. Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000, CA, Rotterdam, The Netherlands 2. BGI-Shenzhen, Beishan Industrial Zone, Yantian District, 518083, Shenzhen, China 3. Neurology Service and Stroke Unit, General Hospital S. Michele AOB \"G. Brotzu\", Cagliari, Italy 4. Department of Neurology and Stroke Unit, San Francesco Hospital, ASL No.3, Nuoro, Italy 5. Clinical Pharmacology Unit, Instituto de Medicina Molecular, University of Lisbon, Lisbon, Portugal 6. Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy 7. Neurology Service, Hospital Clínic de Barcelona, IDIBAPS, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Universitat de Barcelona, Barcelona, Catalonia, Spain 8. National Research Council, Section of Germaneto, Institute of Molecular Bioimaging and Physiology, Catanzaro, Italy 9. Dipartimento di Biotecnologie Mediche e Medicina Traslazionale (BIOMETRA), Università degli Studi di Milano, Milan, Italy 10. Institute of Neurology, Department of Medical Sciences, University Magna Graecia, Catanzaro, Italy 11. Laboratory of Neurodegenerative Disorders, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)-Fundació Clinic, Barcelona, Spain 12. Department of Biology, University of Copenhagen, Copenhagen, Denmark 13. King Abdulaziz University, Jeddah, Saudi Arabia 14. The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark (literal)
Titolo
  • An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate (literal)
Abstract
  • Parkinson's disease (PD) is a common neurodegenerative disorder of complex aetiology. Rare, highly penetrant PD-causing mutations and common risk factors of small effect size have been identified in several genes/loci. However, these mutations and risk factors only explain a fraction of the disease burden, suggesting that additional, substantial genetic determinants remain to be found. Genetically isolated populations offer advantages for dissecting the genetic architecture of complex disorders, such as PD. We performed exome sequencing in 100 unrelated PD patients from Sardinia, a genetic isolate. SNPs absent from dbSNP129 and 1000 Genomes, shared by at least five patients, and of functional effects were genotyped in an independent Sardinian case-control sample (n = 500). Variants associated with PD with nominal p value <0.05 and those with odds ratio (OR) >=3 were validated by Sanger sequencing and typed in a replication sample of 2965 patients and 2678 controls from Italy, Spain, and Portugal. We identified novel moderately rare variants in several genes, including SCAPER, HYDIN, UBE2H, EZR, MMRN2 and OGFOD1 that were specifically present in PD patients or enriched among them, nominating these as novel candidate risk genes for PD, although no variants achieved genome-wide significance after Bonferroni correction. Our results suggest that the genetic bases of PD are highly heterogeneous, with implications for the design of future large-scale exome or whole-genome analyses of this disease. (literal)
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