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

Neurobiol Aging. 2017 Feb;50:167.e11-167.e13. doi: 10.1016/j.neurobiolaging.2016.10.004. Epub 2016 Oct 11.

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.

Keywords: IPDGC; Mutation screening; Parkinson's disease; Rotterdam Study Exome Sequencing Database; SKAT-O; TMEM230.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, N.I.H., Intramural
  • Research Support, N.I.H., Extramural

MeSH terms

  • Databases, Genetic
  • European Continental Ancestry Group / genetics
  • Exome / genetics
  • Female
  • Genes, Dominant / genetics
  • Genetic Association Studies*
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation, Missense / genetics*
  • Parkinson Disease / genetics*
  • Risk
  • Sequence Analysis

Substances

  • Membrane Proteins
  • TMEM230 protein, human