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May 19, 2026Advanced Genetics0 citationsOpen Access

Locus‐Specific Genetic Associations at the DAOA Gene in Schizophrenia and Bipolar Disorder

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MKMadiha KhalidMMMuhammad MukhtarMSMuhammad Saqlain

Key Points

  • This study aims to explore genetic variants at the DAOA gene associated with schizophrenia and bipolar disorder.
  • Included 120 bipolar disorder patients and 200 schizophrenia patients, along with matched controls.
  • Conducted genotyping and risk association analysis for the DAOA gene variants.
  • Performed genotype-phenotype analysis to assess clinical correlations.
  • The DAOA SNP rs2391191 showed a nominal association with both schizophrenia and bipolar disorder.
  • Genotype-phenotype analysis revealed associations with clinical features like insomnia in BD and restricted mood in SZ.
  • Findings underscore population-specific genetic variations distinct from European studies.

Abstract

ABSTRACT DAOA gene has been implicated in both schizophrenia (SZ) and bipolar disorder (BD), where genetic variants were associated with each disorder individually. However, the common variants shared between SZ and BD within this gene remain underexplored. The current study investigates locus‐specific genetic variants with a focus on DAOA . A total of 120 BD and 200 SZ patients, along with equal numbers of age‐ and sex‐matched controls from the Pakistani population, were included for genotyping, risk association analysis, haplotype, genotype‐phenotype analysis, and clinical correlations. The DAOA SNP rs2391191 (G/A) showed a nominal association with both SZ and BD. In contrast, rs1935062 showed no association with either disorder, but genotype‐phenotype analysis indicated nominal associations with disorder‐specific clinical features, such as insomnia and disorganized thoughts in BD, and restricted mood and feelings of threat in SZ patients. Our findings suggest locus‐specific associations for SZ and BD at the DAOA locus; however, due to the limited sample size, these findings should be considered exploratory and require further validation in larger cohorts. Further, patterns of allele frequencies and effect sizes diverge from several European studies and global reports, highlighting the population‐specific genetic architecture and allelic heterogeneity.

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Cite This Study

Khalid et al. (2026) studied this question.

synapsesocial.com/papers/6a0bfdc7166b51b53d379206https://doi.org/10.1002/ggn2.202500064
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