De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia

Nat Neurosci. 2020 Feb;23(2):179-184. doi: 10.1038/s41593-019-0565-2. Epub 2020 Jan 13.

Abstract

Schizophrenia is a highly polygenic disorder with important contributions from both common and rare risk alleles. We analyzed exome sequencing data for de novo variants (DNVs) in a new sample of 613 schizophrenia trios and combined this with published data to give a total of 3,444 trios. In this new data, loss-of-function (LoF) DNVs were significantly enriched among 3,471 LoF-intolerant genes, which supports previous findings. In the full dataset, genes associated with neurodevelopmental disorders (n = 159) were significantly enriched for LoF DNVs. Within these neurodevelopmental disorder genes, SLC6A1, which encodes a γ-aminobutyric acid transporter, was associated with missense-damaging DNVs. In 1,122 trios for which genome-wide common variant data were available, schizophrenia and bipolar disorder polygenic risk were significantly overtransmitted to probands. Probands carrying LoF or deletion DNVs in LoF-intolerant or neurodevelopmental disorder genes had significantly less overtransmission of schizophrenia polygenic risk than did non-carriers, which provides a second robust line of evidence that these DNVs increase liability to schizophrenia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Exome Sequencing
  • Female
  • GABA Plasma Membrane Transport Proteins / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Mutation, Missense
  • Schizophrenia / genetics*

Substances

  • GABA Plasma Membrane Transport Proteins
  • SLC6A1 protein, human