Detection of six novel de novo mutations in individuals with low resilience to psychological stress

PLoS One. 2021 Sep 7;16(9):e0256285. doi: 10.1371/journal.pone.0256285. eCollection 2021.

Abstract

Genetic bases of psychological stress resilience have been studied previously, but mechanisms and genetic variants which are involved in stress resilience are still unclear. The present study aimed to evaluate the associations between variants in dopaminergic pathway genes with stress resilience. Subjects of the present study were divided into four groups. Group A included persons with normal reactions to major life events stressors; group B included persons with an acute stress reaction to major life events stressor; group C included persons with normal reactions to Crises/catastrophes stressors, and group D included persons with an acute stress reaction to Crises/catastrophes stressors. DNA was extracted from the subject's blood, and the entire length of 14 genes DRD1, DRD2, DRD3, DRD4, DRD5, COMT, DBH, TH, MAOA, DDC, DAT, 5-HTT, BDNF, and GDNF were sequenced by automated sequencers ABI 3700. Results showed 24 point mutations in 12 genes, including 16 SNPs and six novel mutations, which were significantly correlated to low-stress resilience. Most of the SNPs were known as risk alleles in psychiatric disorders. Several associations were found between genetic variants and psychological characteristics. Findings suggest dopaminergic as an important pathway in stress and stress resilience also indicated shared genetic bases between low-stress resilience and several psychiatric disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Dopamine / metabolism*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Polymorphism, Single Nucleotide
  • Receptors, Dopamine / genetics*
  • Resilience, Psychological / physiology*
  • Sequence Analysis, DNA / methods
  • Stress, Psychological / classification
  • Stress, Psychological / genetics*
  • Stress, Psychological / pathology
  • Young Adult

Substances

  • Receptors, Dopamine
  • Dopamine

Grants and funding

Arvin Gene company funded the project and helped us for laboratory process. The funder provided support in the form of salaries for authors, contributor specialists, and materials. Also the neuroimaging genetic laboratory of Arvin gene used for conducting the main part of the study. Arvin Gene company did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The specific roles of these authors are articulated in the ‘author contributions’ section.”