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.
journal_name
Neurobiol Agingjournal_title
Neurobiology of agingauthors
Giri A,Mok KY,Jansen I,Sharma M,Tesson C,Mangone G,Lesage S,Bras JM,Shulman JM,Sheerin UM,International Parkinson's Disease Consortium (IPDGC).,Díez-Fairen M,Pastor P,Martí MJ,Ezquerra M,Tolosa E,Correia-Guedes L,Ferreidoi
10.1016/j.neurobiolaging.2016.10.004subject
Has Abstractpub_date
2017-02-01 00:00:00pages
167.e11-167.e13eissn
0197-4580issn
1558-1497pii
S0197-4580(16)30244-5journal_volume
50pub_type
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