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ADuLT: An efficient and robust time-to-event GWAS.

Emil M Pedersen1,2, Esben Agerbo3,4,5, Oleguer Plana-Ripoll3,6

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Summary
This summary is machine-generated.

The age-dependent liability threshold (ADuLT) model offers robust genome-wide association study (GWAS) power, even with ascertainment bias. This new model outperforms traditional methods like Cox regression for time-to-event phenotypes in genetic research.

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Area of Science:

  • Genetics
  • Statistical Genetics
  • Bioinformatics

Background:

  • Genome-wide association studies (GWAS) commonly analyze time-to-event data using proportional hazards models.
  • The performance of these models, particularly Cox regression, under ascertainment bias and varying genetic models is not well understood.
  • Case-control GWAS may lack power when dealing with complex time-to-event phenotypes and biased sampling.

Purpose of the Study:

  • To introduce and evaluate the age-dependent liability threshold (ADuLT) model as an alternative to Cox regression-based GWAS (SPACox) for time-to-event phenotypes.
  • To compare the power and robustness of ADuLT, SPACox, and standard case-control GWAS under different genetic models and ascertainment scenarios.
  • To assess the performance of these methods in a real-world cohort with strong case ascertainment for psychiatric disorders.

Main Methods:

  • Simulations were conducted using two generative models and varying degrees of case ascertainment.
  • The age-dependent liability threshold (ADuLT) model was proposed as a novel approach.
  • Performance was compared against Cox regression-based GWAS (SPACox) and standard case-control GWAS.
  • The iPSYCH cohort data, including four psychiatric disorders (ADHD, Autism, Depression, Schizophrenia), was analyzed.

Main Results:

  • Cox regression GWAS (SPACox) demonstrated significantly reduced power under strong case ascertainment (5-fold oversampling).
  • The ADuLT model proved robust to ascertainment across all simulated scenarios.
  • In the iPSYCH cohort, ADuLT identified 20 independent genome-wide significant associations, surpassing case-control GWAS (17) and SPACox (8).

Conclusions:

  • The ADuLT model provides a powerful and ascertainment-robust alternative for GWAS of time-to-event phenotypes.
  • Traditional Cox regression GWAS methods are underpowered when significant case ascertainment is present.
  • Integrating age-of-onset information with robust GWAS methods like ADuLT is crucial for increasing power in common health outcome analyses.