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Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease.

Natalie Ellis1, Amelia Tee1, Branduff McAllister2

  • 1Cardiff University School of Medicine, UHW Main Building, Heath Park, Cardiff, United Kingdom.

Biological Psychiatry
|February 24, 2020
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Summary

Genetic factors influence psychiatric and cognitive symptoms in Huntington's disease (HD). Polygenic risk scores for depression and schizophrenia correlate with corresponding HD symptoms, while intelligence scores relate to cognitive decline and apathy.

Keywords:
CognitionDepressionHuntington’s diseasePolygenic riskPsychiatricSchizophrenia

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Area of Science:

  • Neurogenetics
  • Psychiatry
  • Neurodegenerative Diseases

Background:

  • Huntington's disease (HD) is an inherited neurodegenerative disorder linked to CAG repeat expansion in the HTT gene.
  • Diagnosis involves motor control assessment, often accompanied by cognitive and psychiatric symptoms.
  • Genetic factors influencing motor onset are known, but those affecting cognitive and psychiatric aspects remain unclear.

Purpose of the Study:

  • To investigate if common genetic variations influence psychiatric and cognitive symptoms in HD.
  • To test the hypothesis that genetic factors for general population disorders also affect HD presentations.
  • To correlate polygenic risk scores with specific symptoms in a large HD patient cohort.

Main Methods:

  • Construction of polygenic risk scores (PRS) from large genome-wide association studies (GWAS) for psychiatric disorders and intelligence.
  • Analysis of PRS associations with psychiatric and cognitive symptoms in 5160 Huntington's disease patients.
  • Testing PRS for major depression, schizophrenia, intelligence, and other neurodegenerative disorders.

Main Results:

  • Polygenic risk score for major depression correlated with increased depression risk in HD.
  • Schizophrenia PRS was associated with psychosis and irritability in HD patients.
  • Reduced polygenic risk score for intelligence was linked to cognitive impairment and apathy.

Conclusions:

  • Common genetic liability underlies psychiatric symptoms like depression and psychosis in HD.
  • Genetic factors for cognitive impairment and apathy in HD appear distinct from other psychiatric symptoms.
  • Findings suggest potential for using existing depression and schizophrenia treatments for related HD symptoms.