Genome-wide association study confirms extant PD risk loci among the Dutch
| العنوان: | Genome-wide association study confirms extant PD risk loci among the Dutch |
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| المؤلفون: | Sampath Arepalli, Zoltán Bochdanovits, Rob M.A. de Bie, Bart P.C. van de Warrenburg, Albert Hofman, Bart Post, Peter Heutink, Fernando Rivadeneira, Andrew B. Singleton, Dena G. Hernandez, Hans Scheffer, Jacobus J. van Hilten, Karin van Dijk, B.R. Bloem, Daan C. Velseboer, Henk W. Berendse, Patrizia Rizzu, André G. Uitterlinden, Javier Simón-Sánchez |
| المساهمون: | Erasmus MC other, Internal Medicine, Epidemiology, Clinical Genetics, Human genetics, Neurology, Anatomy and neurosciences, NCA - Neurodegeneration, Neuroscience Campus Amsterdam - Neurodegeneration, ANS - Amsterdam Neuroscience, ACS - Amsterdam Cardiovascular Sciences, Graduate School |
| المصدر: | Simon-Sanchez, 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, vol. 19, no. 6, pp. 655-661 . https://doi.org/10.1038/ejhg.2010.254Test European Journal of Human Genetics, 19, 655-61 European Journal of Human Genetics, 19(6), 655-661. Nature Publishing Group European Journal of Human Genetics, 19(6), 655-661 European journal of human genetics, 19(6), 655-661. Nature Publishing Group European Journal of Human Genetics, 19, 6, pp. 655-61 |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | Male, Linkage disequilibrium, Genome-wide association study, Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], 0302 clinical medicine, Gene Frequency, Risk Factors, Genotype, MAPT, Age of Onset, Genetics (clinical), Netherlands, Aged, 80 and over, Genetics, 0303 health sciences, Intracellular Signaling Peptides and Proteins, Parkinson Disease, Middle Aged, HLA, alpha-Synuclein, PD, Female, Functional Neurogenomics [DCN 2], Adult, Adolescent, BST1, tau Proteins, Single-nucleotide polymorphism, Locus (genetics), Human leukocyte antigen, Protein Serine-Threonine Kinases, Biology, GPI-Linked Proteins, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Antigens, CD, Humans, Genetic Predisposition to Disease, GAK/DGKQ, ADP-ribosyl Cyclase, Allele frequency, Aged, 030304 developmental biology, Case-control study, DNA Fingerprinting, Genetic Loci, Case-Control Studies, SNCA, 030217 neurology & neurosurgery, Genome-Wide Association Study |
| الوصف: | 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=1.63x10(-5), OR=1.325 and BST1, rs12502586: P=1.63x10(-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=1.22x10(-4), OR=1.51; HLA, rs4248166: P=4.39x10(-5), OR=1.36; and MAPT, rs3785880: P=1.9x10(-3), OR=1.19). European Journal of Human Genetics (2011) 19, 655-661; doi:10.1038/ejhg.2010.254; published online 19 January 2011 |
| اللغة: | English |
| تدمد: | 1018-4813 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31aeaba6e660fbed1a1d0b0fc4b049e2Test https://research.vu.nl/en/publications/d9194a9e-7750-462b-b3a1-37034d688dabTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....31aeaba6e660fbed1a1d0b0fc4b049e2 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10184813 |
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