Giri, A;
Mok, KY;
Jansen, I;
Sharma, M;
Tesson, C;
Mangone, G;
Lesage, S;
... Simon-Sanchez, J; + view all
(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
, Article 167. 10.1016/j.neurobiolaging.2016.10.004.
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Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinsons disease in the Caucasian population - nihms940626.pdf - Accepted Version Download (181kB) | Preview |
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.
| Type: | Article |
|---|---|
| Title: | Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.neurobiolaging.2016.10.004 |
| Publisher version: | https://doi.org/10.1016/j.neurobiolaging.2016.10.0... |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | TMEM230, Parkinson's disease, IPDGC, Rotterdam Study Exome Sequencing Database, SKAT-O, Mutation screening |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10065150 |
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