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Yue-Ting Deng1, Bang-Sheng Wu1, Jin-Tai Yu1

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Summary
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This study identified novel protein-coding variants linked to dementia and neuropsychiatric traits using whole-exome sequencing. Findings reveal shared genetic associations and implicate brain structure in these conditions.

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Area of Science:

  • Genetics
  • Neuroscience
  • Psychiatry

Background:

  • Genomic loci for dementia are known, but the role of protein-coding variants remains unclear.
  • Genetic links between dementia and neuropsychiatric traits require further investigation.

Purpose of the Study:

  • To investigate the impact of protein-coding variants on dementia and 68 neuropsychiatric traits.
  • To determine genetic correlations between dementia and neuropsychiatric conditions.
  • To explore multi-omics contributions to gene-phenotype linkages.

Main Methods:

  • Large-scale whole-exome sequencing in 350,770 UK Biobank participants.
  • Burden heritability regression for genetic correlation analysis.
  • Multi-omics analysis of brain structures, blood proteins, and inflammation.

Main Results:

  • Identified 20 novel genes associated with neuropsychiatric diseases, including 7 for dementia (4 novel).
  • SYNGAP1 showed pleiotropic effects on cognition; 29 genes correlated with right medial orbitofrontal cortex.
  • Found shared genetic associations between dementia, stroke, neurodegenerative, and some mental disorders.

Conclusions:

  • Characterized a compendium of protein-coding variants for neuropsychiatric phenotypes.
  • Highlights potential therapeutic targets and biological insights for dementia and related disorders.