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Genome-wide association study reveals genetic risk underlying Parkinson's disease

Simón-Sánchez, Javier ; Schulte, Claudia ; Bras, Jose M ; Sharma, Manu ; Gibbs, J Raphael ; Berg, Daniela ; Paisan-Ruiz, Coro ; Lichtner, Peter ; Scholz, Sonja W ; Hernandez, Dena G ; Krüger, Rejko ; Federoff, Monica ; Klein, Christine ; Goate, Alison ; Perlmutter, Joel ; Bonin, Michael ; Nalls, Michael A ; Illig, Thomas ; Gieger, Christian ; Houlden, Henry ; Steffens, Michael ; Okun, Michael S ; Racette, Brad A ; Cookson, Mark R ; Foote, Kelly D ; Fernandez, Hubert H ; Traynor, Bryan J ; Schreiber, Stefan ; Arepalli, Sampath ; Zonozi, Ryan ; Gwinn, Katrina ; van der Brug, Marcel ; Lopez, Grisel ; Chanock, Stephen J ; Schatzkin, Arthur ; Park, Yikyung ; Hollenbeck, Albert ; Gao, Jianjun ; Huang, Xuemei ; Wood, Nick W ; Lorenz, Delia ; Deuschl, Günther ; Chen, Honglei ; Riess, Olaf ; Hardy, John A ; Singleton, Andrew B ; Gasser, Thomas

Nature (London), 2010-08, p.S24 [Periódico revisado por pares]

London: Nature Publishing Group

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Genome-wide association study reveals genetic risk underlying Parkinson's disease
Autor: Simón-Sánchez, Javier ; Schulte, Claudia ; Bras, Jose M ; Sharma, Manu ; Gibbs, J Raphael ; Berg, Daniela ; Paisan-Ruiz, Coro ; Lichtner, Peter ; Scholz, Sonja W ; Hernandez, Dena G ; Krüger, Rejko ; Federoff, Monica ; Klein, Christine ; Goate, Alison ; Perlmutter, Joel ; Bonin, Michael ; Nalls, Michael A ; Illig, Thomas ; Gieger, Christian ; Houlden, Henry ; Steffens, Michael ; Okun, Michael S ; Racette, Brad A ; Cookson, Mark R ; Foote, Kelly D ; Fernandez, Hubert H ; Traynor, Bryan J ; Schreiber, Stefan ; Arepalli, Sampath ; Zonozi, Ryan ; Gwinn, Katrina ; van der Brug, Marcel ; Lopez, Grisel ; Chanock, Stephen J ; Schatzkin, Arthur ; Park, Yikyung ; Hollenbeck, Albert ; Gao, Jianjun ; Huang, Xuemei ; Wood, Nick W ; Lorenz, Delia ; Deuschl, Günther ; Chen, Honglei ; Riess, Olaf ; Hardy, John A ; Singleton, Andrew B ; Gasser, Thomas
Assuntos: Chromosomes ; Education ; Genetics ; Haplotypes ; Health sciences ; Parkinson's disease ; Quality control ; Regression analysis
É parte de: Nature (London), 2010-08, p.S24
Descrição: We performed a genome-wide association study (GWAS) in 1,713 individuals of European ancestry with Parkinson's disease (PD) and 3,978 controls. After replication in 3,361 cases and 4,573 controls, we observed two strong association signals, one in the gene encoding α-synuclein (SNCA; rs2736990, OR = 1.23, P = 2.24 × 10^sup -16^) and another at the MAPT locus (rs393152, OR = 0.77, P = 1.95 × 10^sup -16^). We exchanged data with colleagues performing a GWAS in Japanese PD cases. Association to PD at SNCA was replicated in the Japanese GWAS, confirming this as a major risk locus across populations. We replicated the effect of a new locus detected in the Japanese cohort (PARK16, rs823128, OR = 0.66, P = 7.29 × 10^sup -8^) and provide supporting evidence that common variation around LRRK2 modulates risk for PD (rs1491923, OR = 1.14, P = 1.55 × 10^sup -5^). These data demonstrate an unequivocal role for common genetic variants in the etiology of typical PD and suggest population-specific genetic heterogeneity in this disease. [PUBLICATION ABSTRACT]
Editor: London: Nature Publishing Group
Idioma: Inglês

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Genome-wide association study reveals genetic risk underlying Parkinson's disease

London: Nature Publishing Group

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