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Analysis of CACNA1C and KCNH2 Risk Variants on Cardiac Autonomic Function in Patients with Schizophrenia

Alexander Refisch1,2, Shoko Komatsuzaki3, Martin Ungelenk3

  • 1Department of Psychiatry and Psychotherapy, Jena University Hospital, 07743 Jena, Germany.

Genes
|November 24, 2022
PubMed

Insights

Genetic variations in CACNA1C and KCNH2 are linked to cardiac autonomic dysfunction (CADF) in schizophrenia patients. These findings suggest a potential genetic predisposition to heart problems and increased mortality risk in this population.

Area of Science:

  • Genetics
  • Cardiology
  • Psychiatry

Background:

  • Cardiac autonomic dysfunction (CADF) significantly increases cardiac mortality in schizophrenia patients.
  • Aberrant voltage-gated ion channel function may link schizophrenia and CADF.
  • CACNA1C and KCNH2 are candidate genes for both conditions.

Purpose of the Study:

  • To investigate the association between genetic variations in CACNA1C and KCNH2 and CADF parameters in unmedicated schizophrenia patients.
  • To identify specific single-nucleotide polymorphisms (SNPs) within these genes associated with schizophrenia and CADF traits.

Main Methods:

  • Literature search for SNPs in CACNA1C and KCNH2 associated with schizophrenia and CADF.
  • Genotyping of selected SNPs in 77 unmedicated schizophrenia patients and 144 healthy controls.
  • Analysis of genotype-related impacts on heart rate (HR) dynamics and QT variability indices (QTvi).

Main Results:

  • Significant increases in QTvi were observed in patients with CADF-risk alleles in CACNA1C (rs2283274 C) and schizophrenia-risk alleles (rs2239061 G).
  • Patients with schizophrenia risk alleles in KCNH2 (rs11763131 A, rs3807373 A, rs3800779 C, rs748693 G, and 1036145 T) exhibited increased mean HR and QTvi.
  • These associations were observed independently of psychopharmaceutical influence.

Conclusions:

  • Common variations in CACNA1C and KCNH2 may play a pleiotropic role in CADF within schizophrenia patients.
  • These genetic factors could predispose individuals to cardiac arrhythmias and premature death.
  • The findings highlight potential therapeutic targets for mitigating cardiac risks in schizophrenia.
Abstract

Keywords:
CACNA1CKCNH2QT variabilitycardiac autonomic dysfunctioncardiac mortalityheart rate variabilityschizophreniavagal function

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