Genetic Architecture of Postpartum Psychosis: From Common to Rare Genetic Variation
2024

Genetic Architecture of Postpartum Psychosis

Sample size: 240009 publication 10 minutes Evidence: moderate

Author Information

Author(s): Jung Seulgi, Caballero Madison, Kępińska Adrianna, Smout Shelby, Munk-Olsen Trine, Robakis Thalia K., Bergink Veerle, Mahjani Behrang

Primary Institution: Icahn School of Medicine at Mount Sinai, New York, NY, USA

Hypothesis

How do common and rare genetic variations contribute to the risk of postpartum psychosis?

Conclusion

The study reveals unique genetic contributions and shared pathways for postpartum psychosis, highlighting the roles of specific genes.

Supporting Evidence

  • Postpartum psychosis affects 0.1–0.2% of mothers following childbirth.
  • The heritability of postpartum psychosis was estimated at 55%.
  • DNMT1 and HMGCR were identified as potential risk genes.
  • 17% of bipolar disorder risk genes overlap with postpartum psychosis.
  • 21% of schizophrenia risk genes overlap with postpartum psychosis.
  • Ultra-rare coding variants significantly influence the risk of postpartum psychosis.
  • The study utilized data from over 240,000 samples to identify genetic associations.
  • Findings suggest shared genetic architecture with other psychiatric disorders.

Takeaway

Postpartum psychosis is linked to genetic factors, and researchers found specific genes that may increase the risk of this condition.

Methodology

The study used familial data from Swedish national registers and whole genome sequencing data from the All of Us Research Program to estimate heritability and identify risk genes.

Potential Biases

Potential bias due to the inclusion of undiagnosed cases as controls and the focus on female pairs in family-based analysis.

Limitations

The study's definition of postpartum psychosis may vary, and the sample size for cases was limited, which could affect the findings.

Participant Demographics

The study included mothers who experienced their first childbirth between 1980 and 2017, with a focus on postpartum psychosis cases.

Statistical Information

P-Value

9.59×10−6

Confidence Interval

95% CI: 42%–68%

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1101/2024.12.09.24318732

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