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Large-scale replication and heterogeneity in Parkinson disease genetic loci

dc.creatorSharma, M.en
dc.creatorIoannidis, J. P. A.en
dc.creatorAasly, J. O.en
dc.creatorAnnesi, G.en
dc.creatorBrice, A.en
dc.creatorVan Broeckhoven, C.en
dc.creatorBertram, L.en
dc.creatorBozi, M.en
dc.creatorCrosiers, D.en
dc.creatorClarke, C.en
dc.creatorFacheris, M.en
dc.creatorFarrer, M.en
dc.creatorGarraux, G.en
dc.creatorGispert, S.en
dc.creatorAuburger, G.en
dc.creatorVilariño-Güell, C.en
dc.creatorHadjigeorgiou, G. M.en
dc.creatorHicks, A. A.en
dc.creatorHattori, N.en
dc.creatorJeon, B.en
dc.creatorLesage, S.en
dc.creatorLill, C. M.en
dc.creatorLin, J. J.en
dc.creatorLynch, T.en
dc.creatorLichtner, P.en
dc.creatorLang, A. E.en
dc.creatorMok, V.en
dc.creatorJasinska-Myga, B.en
dc.creatorMellick, G. D.en
dc.creatorMorrison, K. E.en
dc.creatorOpala, G.en
dc.creatorPramstaller, P. P.en
dc.creatorPichler, I.en
dc.creatorPark, S. S.en
dc.creatorQuattrone, A.en
dc.creatorRogaeva, E.en
dc.creatorRoss, O. A.en
dc.creatorStefanis, L.en
dc.creatorStockton, J. D.en
dc.creatorSatake, W.en
dc.creatorSilburn, P. A.en
dc.creatorTheuns, J.en
dc.creatorTan, E. K.en
dc.creatorToda, T.en
dc.creatorTomiyama, H.en
dc.creatorUitti, R. J.en
dc.creatorWirdefeldt, K.en
dc.creatorWszolek, Z.en
dc.creatorXiromerisiou, G.en
dc.creatorYueh, K. C.en
dc.creatorZhao, Y.en
dc.creatorGasser, T.en
dc.creatorMaraganore, D.en
dc.creatorKrüger, R.en
dc.date.accessioned2015-11-23T10:47:13Z
dc.date.available2015-11-23T10:47:13Z
dc.date.issued2012
dc.identifier10.1212/WNL.0b013e318264e353
dc.identifier.issn283878
dc.identifier.urihttp://hdl.handle.net/11615/32977
dc.description.abstractObjective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which these genetic effects are consistent across different populations is unknown. Methods: Investigators from the Genetic Epidemiology of Parkinson's Disease Consortium were invited to participate in the study. A total of 11 SNPs were genotyped in 8,750 cases and 8,955 controls. Fixed as well as random effects models were used to provide the summary risk estimates for these variants. We evaluated between-study heterogeneity and heterogeneity between populations of different ancestry. Results: In the overall analysis, single nucleotide polymorphisms (SNPs) in 9 loci showed significant associations with protective per-allele odds ratios of 0.78-0.87 (LAMP3, BST1, and MAPT) and susceptibility per-allele odds ratios of 1.14-1.43 (STK39, GAK, SNCA, LRRK2, SYT11, and HIP1R). For 5 of the 9 replicated SNPs there was nominally significant between-site heterogeneity in the effect sizes (I2 estimates ranged from 39% to 48%). Subgroup analysis by ethnicity showed significantly stronger effects for the BST1 (rs11724635) in Asian vs Caucasian populations and similar effects for SNCA, LRRK2, LAMP3, HIP1R, and STK39 in Asian and Caucasian populations, while MAPT rs2942168 and SYT11 rs34372695 were monomorphic in the Asian population, highlighting the role of population-specific heterogeneity in PD. Conclusion: Our study allows insight to understand the distribution of newly identified genetic factors contributing to PD and shows that large-scale evaluation in diverse populations is important to understand the role of population-specific heterogeneity. Copyright © 2012 by AAN Enterprises, Inc.en
dc.source.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-84865196862&partnerID=40&md5=3c10498c7ff353916672f2f6dd321768
dc.subjectACMSD proteinen
dc.subjectalpha synucleinen
dc.subjectBST1 proteinen
dc.subjectdendritic cell lysosome associated membrane proteinen
dc.subjectGAK1 proteinen
dc.subjectHIP1R proteinen
dc.subjectHLA DRB5 antigenen
dc.subjectleucine rich repeat kinase 2en
dc.subjectpeptides and proteinsen
dc.subjectSTK39 proteinen
dc.subjectSYT11 proteinen
dc.subjecttau proteinen
dc.subjectunclassified drugen
dc.subjectarticleen
dc.subjectAsianen
dc.subjectCaucasianen
dc.subjectcontrolled studyen
dc.subjectgene frequencyen
dc.subjectgene locusen
dc.subjectgene replicationen
dc.subjectgenetic associationen
dc.subjectgenetic heterogeneityen
dc.subjectgenetic risken
dc.subjectgenetic susceptibilityen
dc.subjectgenetic variabilityen
dc.subjectgenotyping techniqueen
dc.subjecthumanen
dc.subjectmajor clinical studyen
dc.subjectParkinson diseaseen
dc.subjectpopulation geneticsen
dc.subjectpriority journalen
dc.subjectrisk assessmenten
dc.subjectsingle nucleotide polymorphismen
dc.subjectAgeden
dc.subjectAllelesen
dc.subjectCase-Control Studiesen
dc.subjectFemaleen
dc.subjectGenetic Locien
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectGenome-Wide Association Studyen
dc.subjectGenotypeen
dc.subjectHumansen
dc.subjectMaleen
dc.subjectMiddle Ageden
dc.subjectPolymorphism, Single Nucleotideen
dc.titleLarge-scale replication and heterogeneity in Parkinson disease genetic locien
dc.typejournalArticleen


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