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

Siitonen, A ; Nalls, M.A ; Hernández, D ; Gibbs, J.R ; Ding, J ; Ylikotila, P ; Edsall, C ; Singleton, A ; Majamaa, K

Neurobiology of aging, 2017-05, Vol.53, p.195.e7-195.e10 [Periódico revisado por pares]

United States: Elsevier Inc

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Título:
Genetics of early onset Parkinson’s disease in Finland: exome sequencing and genome-wide association study
Autor: Siitonen, A ; Nalls, M.A ; Hernández, D ; Gibbs, J.R ; Ding, J ; Ylikotila, P ; Edsall, C ; Singleton, A ; Majamaa, K
Assuntos: alpha 1-Antitrypsin - genetics ; Base Sequence ; Cohort Studies ; Exome - genetics ; Finland ; Finnish ; Genetic Predisposition to Disease - genetics ; Genome-Wide Association Study ; GWAS ; Humans ; Internal Medicine ; Neurology ; Parkinson Disease - genetics ; Phosphoproteins - genetics ; Ribonucleoproteins - genetics ; Sequence Analysis, DNA - methods ; WES ; WXS
É parte de: Neurobiology of aging, 2017-05, Vol.53, p.195.e7-195.e10
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Descrição: 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 early-onset PD. We also re-analyzed 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 dataset (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 in order to determine the role of these genes in PD.
Editor: United States: Elsevier Inc
Idioma: Inglês

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

Siitonen, A ; Nalls, M.A ; Hernández, D ; Gibbs, J.R ; Ding, J ; Ylikotila, P ; Edsall, C ; Singleton, A ; Majamaa, K

United States: Elsevier Inc

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