Portal de Periódicos da CAPES

Genome-wide association study confirms extant PD risk loci among the Dutch

2011; Springer Nature; Volume: 19; Issue: 6 Linguagem: Inglês

10.1038/ejhg.2010.254

1476-5438

Javier Simón‐Sánchez, Jacobus J. van Hilten, Bart van de Warrenburg, Bart Post, Henk W. Berendse, Sampath Arepalli, Dena G Hernandez, Rob M.A. de Bie, Daan C. Velseboer, Hans Scheffer, Bas R. Bloem, Karin D van Dijk, Fernando Rivadeneira, Albert Hofman, André G. Uitterlinden, Patrizia Rizzu, Zoltán Bochdanovits, Andrew B. Singleton, Peter Heutink,

Genetic Associations and Epidemiology

In view of the population-specific heterogeneity in reported genetic risk factors for Parkinson's disease (PD), we conducted a genome-wide association study (GWAS) in a large sample of PD cases and controls from the Netherlands. After quality control (QC), a total of 514 799 SNPs genotyped in 772 PD cases and 2024 controls were included in our analyses. Direct replication of SNPs within SNCA and BST1 confirmed these two genes to be associated with PD in the Netherlands (SNCA, rs2736990: P=1.63 × 10−5, OR=1.325 and BST1, rs12502586: P=1.63 × 10−3, OR=1.337). Within SNCA, two independent signals in two different linkage disequilibrium (LD) blocks in the 3′ and 5′ ends of the gene were detected. Besides, post-hoc analysis confirmed GAK/DGKQ, HLA and MAPT as PD risk loci among the Dutch (GAK/DGKQ, rs2242235: P=1.22 × 10−4, OR=1.51; HLA, rs4248166: P=4.39 × 10−5, OR=1.36; and MAPT, rs3785880: P=1.9 × 10−3, OR=1.19).