Positive and balancing selection on SLC18A1 gene associated with psychiatric disorders and human-unique personality traits

Daiki X. Sato, Masakado Kawata

Research output: Contribution to journalLetterpeer-review

5 Citations (Scopus)

Abstract

Maintenance of genetic variants susceptible to psychiatric disorders is one of the intriguing evolutionary enigmas. The present study detects three psychiatric disorder-relevant genes (CLSTN2, FAT1, and SLC18A1) that have been under positive selection during the human evolution. In particular, SLC18A1 (vesicular monoamine transporter 1; VMAT1) gene has a human-unique variant (rs1390938, Thr136Ile), which is associated with bipolar disorders and/or the anxiety-related personality traits. 136Ile shows relatively high (20–61%) frequency in non-African populations, and Tajima's D reports a significant peak around the Thr136Ile site, suggesting that this polymorphism has been positively maintained by balancing selection in non-African populations. Moreover, Coalescent simulations predict that 136Ile originated around 100,000 years ago, the time being generally associated with the Out-of-Africa migration of modern humans. Our study sheds new light on a gene in monoamine pathway as a strong candidate contributing to human-unique psychological traits.

Original languageEnglish
Pages (from-to)499-510
Number of pages12
JournalEvolution Letters
Volume2
Issue number5
DOIs
Publication statusPublished - 2018 Oct

Keywords

  • Human evolution
  • personality traits
  • psychiatric disorders
  • VMAT1

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics

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