A1 Refereed original research article in a scientific journal

Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study




AuthorsSiitonen A, Nalls MA, Hernandez D, Gibbs JR, Ding JH, Ylikotila P, Edsall C, Singleton A, Majamaa K

PublisherELSEVIER SCIENCE INC

Publication year2017

JournalNeurobiology of Aging

Journal name in sourceNEUROBIOLOGY OF AGING

Journal acronymNEUROBIOL AGING

Article numberARTN 195.e7

Volume53

Number of pages4

ISSN0197-4580

eISSN1558-1497

DOIhttps://doi.org/10.1016/j.neurobiolaging.2017.01.019


Abstract
Several genes and risk factors are associated with Parkinson's disease (PD). Although many of the genetic markers belong to a common pathway, a unifying pathogenetic mechanism is yet to be found. Also, missing heritability analyses have estimated that only part of the genetic influence contributing to PD has been found. Here, we carried out whole-exome sequencing (WES) on 438 Finnish patients with earlyonset PD. We also reanalyzed previous data from genome-wide association studies (GWAS) on the same cohort. Variants in the CEL gene/locus were associated with PD in both GWAS and WES analysis. Exome-wide gene-based association tests also identified the MPHOSPH10, TAS2R19, and SERPINA1 genes in the discovery data set (p < 2.5E-6). MPHOSPH10 had estimated odds ratio (OR) of 1.53, and the rs141620200 variant in SERPINA1 had OR of 1.27. We identified several candidate genes, but further investigation is required to determine the role of these genes in PD. (C) 2017 Elsevier Inc. All rights reserved.



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