Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

By D. Ruderfer, S. Ripke, A. McQuillin, J. Boocock, Eli A. Stahl, J. M. W. Pavlides, N. Mullins, A. Charney, A. Ori, L. M. Loohuis and 529 more. Cell, 2018

667 citations recorded by the source corpus.

Summary Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology. Understanding the genetic factors contributing to the shared and disorder-specific symptoms will be crucial for improving diagnosis and treatment. In genetic data consisting of 53,555 cases (20,129 BD, 33,426 SCZ) and 54,065 controls, we identified 114 genome-wide significant loci implicating synaptic and neuronal pathways shared between disorders. Comparing SCZ to BD (23,585 SCZ, 15,270 BD) identified four genomic regions including one with disorder-independent causal variants and potassium ion response genes as contributing to differences in biology between the disorders. Polygenic risk score (PRS) analyses identified several significant correlations within case-only phenotypes including SCZ PRS with psychotic features and age of onset in BD. For the first time, we discover specific loci that distinguish between BD and SCZ and identify polygenic components underlying multiple symptom dimensions. These results point to the utility of genetics to inform symptomology and potentially treatment.

Subfields: Genetics

View Paper: https://www.semanticscholar.org/paper/80db479403d88ed030188c353247851074d4842c

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

  1. H. Won
  2. Daniel H. Geschwind
  3. Pat Levitt
  4. Daniel R. Weinberger
  5. Ming Hu
  6. Danielle Posthuma
  7. Mark Gerstein
  8. Patrick F. Sullivan

Citations in the corpus