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. 2024 Jan:263:178-190.
doi: 10.1016/j.schres.2023.07.015. Epub 2023 Jul 28.

Exploring genetic risk for catatonia in a genome wide association study and polygenic risk score analysis

Jo Ellen Wilson  1 , Julia Sealock  2 , Peter Straub  2 , Rameela Raman  3 , Aaron M Kipp  4 , Robert S Dittus  5 , Stephan Heckers  6 , Wes Ely  7 , Lea K Davis  8
Affiliations

Exploring genetic risk for catatonia in a genome wide association study and polygenic risk score analysis

Jo Ellen Wilson et al. Schizophr Res. 2024 Jan.

Abstract

Background: Catatonia is an under-recognized disorder characterized by psychomotor (increased, decreased, or abnormal) changes, affective symptoms, and disturbance of volition, which may arise in the setting of decompensated psychiatric or non-psychiatric medical disorders. Genetic studies of catatonia are limited, and to the best of our knowledge no prior genome wide association studies of catatonia have been performed to date.

Methods: First we performed a genome wide association study of catatonia regardless of etiology (psychiatric or non-psychiatric). Secondarily we evaluated whether there was an elevated genetic risk profile for predisposing psychiatric disorders (schizophrenia spectrum disorder, bipolar affective disorder, etc.) in patients with catatonia. We used a matched case control design and applied polygenic risk scores to evaluate for a shared polygenetic contribution to catatonia from common psychiatric phenotypes that show a high prevalence of catatonia in their decompensated states.

Results: Anxiety, bipolar affective disorder, schizophrenia spectrum disorder and cross disorder polygenic risk scores were significantly associated with catatonia case status in both unadjusted and adjusted logistic regression models for the European Ancestry set even after correcting for multiple comparisons. Depression, Alzheimer's, Autism Spectrum Disorder and Obsessive Disorder polygenic risk scores were not significantly associated with catatonia status in participants of European Ancestry. In the African Ancestry set, no psychiatric polygenic risk scores were significantly associated with catatonia status in either the unadjusted or adjusted regression models.

Conclusions: Even after controlling for relevant covariates, anxiety, bipolar affective disorder, schizophrenia spectrum disorder and cross disorders were significantly associated with catatonia status suggesting that there might be a shared genetic risk for those disorders amongst patients with catatonia.

Keywords: Catatonia; Genetics; Polygenic risk; Schizophrenia.

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Conflict of interest statement

Declaration of competing interest The authors disclose that the research was conducted in the absence of any commercial or financial relationships that could be seen as a potential conflict of interest.

Figures

Figure 1.
Figure 1.
European Ancestry plots.
Figure 1.
Figure 1.
European Ancestry plots.
Figure 1.
Figure 1.
European Ancestry plots.
Figure 2.
Figure 2.
African Ancestry plots.
Figure 2.
Figure 2.
African Ancestry plots.
Figure 2.
Figure 2.
African Ancestry plots.
Figure 3:
Figure 3:
Decile plots* for the European Ancestry PRS models. *decile of psychiatric disorder polygenic risk score were plotted against the referent (lowest decile).
Figure 3:
Figure 3:
Decile plots* for the European Ancestry PRS models. *decile of psychiatric disorder polygenic risk score were plotted against the referent (lowest decile).
Figure 3:
Figure 3:
Decile plots* for the European Ancestry PRS models. *decile of psychiatric disorder polygenic risk score were plotted against the referent (lowest decile).
Figure 3:
Figure 3:
Decile plots* for the European Ancestry PRS models. *decile of psychiatric disorder polygenic risk score were plotted against the referent (lowest decile).
See this image and copyright information in PMC

References

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