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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.

Original publication




Journal article


Neurobiol Aging

Publication Date





167.e11 - 167.e13


IPDGC, Mutation screening, Parkinson's disease, Rotterdam Study Exome Sequencing Database, SKAT-O, TMEM230, Databases, Genetic, European Continental Ancestry Group, Exome, Female, Genes, Dominant, Genetic Association Studies, Heterozygote, Humans, Male, Membrane Proteins, Mutation, Missense, Parkinson Disease, Risk, Sequence Analysis