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

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 Velseboer; Hans Scheffer; Bas Bloem; Karin D. van Dijk; Fernando Rivadeneira; Albert Hofman; André G. Uitterlinden; Patrizia Rizzu; Zoltan Bochdanovits; Andrew B. Singleton; Peter Heutink

doi:https://doi.org/10.1038/ejhg.2010.254

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

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 Velseboer, Hans Scheffer, Bas Bloem, Karin D. van Dijk, Fernando Rivadeneira, Albert Hofman, André G. Uitterlinden, Patrizia Rizzu, Zoltan Bochdanovits, Andrew B. Singleton, Peter Heutink

Research output: Contribution to journal › Article › Academic › peer-review

154 Citations (Scopus)

Abstract

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)

Original language	English
Pages (from-to)	655-661
Journal	European journal of human genetics
Volume	19
Issue number	6
DOIs	https://doi.org/10.1038/ejhg.2010.254
Publication status	Published - 2011

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

https://doi.org/10.1038/ejhg.2010.254

Cite this

Simón-Sánchez, J., van Hilten, J. J., van de Warrenburg, B., Post, B., Berendse, H. W., Arepalli, S., Hernandez, D. G., de Bie, R. M. A., Velseboer, D., Scheffer, H., Bloem, B., van Dijk, K. D., Rivadeneira, F., Hofman, A., Uitterlinden, A. G., Rizzu, P., Bochdanovits, Z., Singleton, A. B., & Heutink, P. (2011). Genome-wide association study confirms extant PD risk loci among the Dutch. European journal of human genetics, 19(6), 655-661. https://doi.org/10.1038/ejhg.2010.254

@article{04075dda743e4172bbb8ae618c70e420,

title = "Genome-wide association study confirms extant PD risk loci among the Dutch",

abstract = "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)",

author = "Javier Sim{\'o}n-S{\'a}nchez and {van Hilten}, {Jacobus J.} and {van de Warrenburg}, Bart and Bart Post and Berendse, {Henk W.} and Sampath Arepalli and Hernandez, {Dena G.} and {de Bie}, {Rob M. A.} and Daan Velseboer and Hans Scheffer and Bas Bloem and {van Dijk}, {Karin D.} and Fernando Rivadeneira and Albert Hofman and Uitterlinden, {Andr{\'e} G.} and Patrizia Rizzu and Zoltan Bochdanovits and Singleton, {Andrew B.} and Peter Heutink",

year = "2011",

doi = "https://doi.org/10.1038/ejhg.2010.254",

language = "English",

volume = "19",

pages = "655--661",

journal = "European journal of human genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "6",

}

Simón-Sánchez, J, van Hilten, JJ, van de Warrenburg, B, Post, B, Berendse, HW, Arepalli, S, Hernandez, DG, de Bie, RMA , Velseboer, D, Scheffer, H, Bloem, B, van Dijk, KD, Rivadeneira, F, Hofman, A, Uitterlinden, AG, Rizzu, P, Bochdanovits, Z, Singleton, AB & Heutink, P 2011, 'Genome-wide association study confirms extant PD risk loci among the Dutch', European journal of human genetics, vol. 19, no. 6, pp. 655-661. https://doi.org/10.1038/ejhg.2010.254

TY - JOUR

T1 - Genome-wide association study confirms extant PD risk loci among the Dutch

AU - Simón-Sánchez, Javier

AU - van Hilten, Jacobus J.

AU - van de Warrenburg, Bart

AU - Post, Bart

AU - Berendse, Henk W.

AU - Arepalli, Sampath

AU - Hernandez, Dena G.

AU - de Bie, Rob M. A.

AU - Velseboer, Daan

AU - Scheffer, Hans

AU - Bloem, Bas

AU - van Dijk, Karin D.

AU - Rivadeneira, Fernando

AU - Hofman, Albert

AU - Uitterlinden, André G.

AU - Rizzu, Patrizia

AU - Bochdanovits, Zoltan

AU - Singleton, Andrew B.

AU - Heutink, Peter

PY - 2011

Y1 - 2011

N2 - 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)

AB - 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)

U2 - https://doi.org/10.1038/ejhg.2010.254

DO - https://doi.org/10.1038/ejhg.2010.254

M3 - Article

C2 - 21248740

SN - 1018-4813

VL - 19

SP - 655

EP - 661

JO - European journal of human genetics

JF - European journal of human genetics

IS - 6

ER -