Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.



Giri, Anamika, Mok, Kin Y ORCID: 0000-0003-3145-880X, Jansen, Iris, Sharma, Manu, Tesson, Christelle, Mangone, Graziella ORCID: 0000-0002-2847-3067, Lesage, Suzanne, Bras, José M ORCID: 0000-0001-8186-0333, Shulman, Joshua M, Sheerin, Una-Marie
et al (show 15 more authors) (2017) Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population. Neurobiology of aging, 50. 167.e11-167.e13.

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Abstract

Mutations in TMEM230 have recently been associated to Parkinson's disease (PD). To further understand the role of this gene in the Caucasian population, we interrogated our large repository of next generation sequencing data from unrelated PD cases and controls, as well as multiplex families with autosomal dominant PD. We identified 2 heterozygous missense variants in 2 unrelated PD cases and not in our control database (p.Y106H and p.I162V), and a heterozygous missense variant in 2 PD cases from the same family (p.A163T). However, data presented herein is not sufficient to support the role of any of these variants in PD pathology. A series of unified sequence kernel association tests also failed to show a cumulative effect of rare variation in this gene on the risk of PD in the general Caucasian population. Further evaluation of genetic data from different populations is needed to understand the genetic role of TMEM230 in PD etiology.

Item Type: Article
Additional Information: publisher: Elsevier articletitle: Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population journaltitle: Neurobiology of Aging articlelink: http://dx.doi.org/10.1016/j.neurobiolaging.2016.10.004 content_type: article copyright: © 2016 Elsevier Inc. All rights reserved.
Uncontrolled Keywords: International Parkinson's Disease Consortium (IPDGC), Humans, Parkinson Disease, Membrane Proteins, Risk, Sequence Analysis, Heterozygote, Genes, Dominant, Mutation, Missense, Databases, Genetic, Female, Male, Genetic Association Studies, Exome, White People
Depositing User: Symplectic Admin
Date Deposited: 13 Sep 2018 13:11
Last Modified: 17 Mar 2024 21:10
DOI: 10.1016/j.neurobiolaging.2016.10.004
Related URLs:
URI: https://livrepository.liverpool.ac.uk/id/eprint/3026135