NDLI: An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate

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An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate

Content Provider	Springer Nature Link
Author	Quadri, Marialuisa Yang, Xu Cossu, Giovanni Olgiati, Simone Saddi, Valeria M. Breedveld, Guido J. Ouyang, Limei Hu, Jingchu Xu, Na Graafland, Josja Ricchi, Valeria Murgia, Daniela Guedes, Leor Correia Mariani, Claudio Marti, Maria J. Taranti, Patrizia Asselta, Rosanna Valldeoriola, Francesc Gagliardi, Monica Pezzoli, Gianni Ezquerra, Mario Quattrone, Aldo Ferreira, Joaquim Annesi, Grazia Goldwurm, Stefa Tolosa, Eduardo Oostra, Ben A. Melis, Maurizio Wang, Jun Bonifati, Vincenzo
Copyright Year	2014
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.
Starting Page	55
Ending Page	64
Page Count	10
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	16
Issue Number	1
e-ISSN	13646753
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2014-10-08
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Parkinson’s disease Genetic-isolated population Sardinia Whole-exome sequencing Goldilocks alleles PD candidate risk genes Neurosciences Human Genetics Molecular Medicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate