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September 6, 2026BMC PsychiatryOpen Access

Polygenic risk score analysis for major depressive disorder in a Chinese cohort: single-phenotype and pathway-based approaches

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Authors

ZXZhi XuYSYing ShaoYLYang Li

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Overview

Case-control study demonstrates that pathway-specific polygenic risk scores improve prediction of major depressive disorder in Chinese individuals, highlighting distinct biological mechanisms.

Key Points

  • To evaluate the predictive utility of single-phenotype and biological pathway-specific polygenic risk scores for major depressive disorder in a Chinese cohort.
  • Analyzed genomic data from 721 DSM-IV-diagnosed major depressive disorder patients and 960 healthy controls against East Asian summary statistics for psychiatric and metabolic phenotypes.
  • Generated genome-wide and Gene Ontology pathway-specific polygenic risk scores using PRSice-2, evaluating case-control associations via age- and sex-adjusted logistic regression.
  • Major depressive disorder polygenic risk scores differed significantly between cases and controls (p < 0.001), yielding a significant predictive model (empirical p = 9.999×10⁻⁵, pseudo-R² = 2.3%), while cross-phenotype models were not significant.
  • Identified 18 biological process, 14 molecular function, and 13 cellular component pathways with significant association, with most pathway-based models outperforming the single-phenotype model.

Cite This Study

Xu et al. (2026) studied this question.

synapsesocial.com/papers/6a9d1db828139818eab20992https://doi.org/10.1186/s12888-026-08589-7
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