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This study presents Polygenic Score (PGS) distributions for 3124 diseases and traits in the Spanish population. These genetic insights aid in understanding disease susceptibility and advancing personalized medicine.

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Area of Science:

  • Genetics
  • Population Genomics
  • Bioinformatics

Background:

  • Polygenic Scores (PGS) are crucial for understanding genetic contributions to complex diseases and traits.
  • Population-specific genetic architecture influences disease risk and necessitates tailored analyses.
  • Previous studies have lacked comprehensive PGS distributions for diverse diseases within the Spanish population.

Purpose of the Study:

  • To establish comprehensive Polygenic Score (PGS) distributions for 3124 common diseases and quantitative traits in a Spanish cohort.
  • To investigate the genetic architecture of diseases and traits within the Spanish population.
  • To provide a reproducible data processing pipeline and a web interface for accessing PGS reference distributions.

Main Methods:

  • Genome and exome data from 2190 unrelated individuals of Spanish ancestry were analyzed.
  • Polygenic Scores were computed for 3124 common diseases and quantitative traits.
  • Pairwise correlations between disease and trait PGS were explored.

Main Results:

  • Established PGS distributions for a wide array of diseases (e.g., cancer, digestive, cardiovascular, neuronal, immune) and quantitative traits (e.g., hematological, anthropometric) in the Spanish population.
  • Identified significant pairwise correlations between various disease and trait PGS, suggesting shared genetic underpinnings.
  • Developed and shared a data processing pipeline for PGS computation and a web interface (SpPGS Atlas) for exploring reference distributions.

Conclusions:

  • The generated PGS distributions offer valuable insights into the genetic basis of traits and diseases in the Spanish population.
  • Findings support personalized medicine approaches and public health interventions tailored to this population.
  • The provided resources enhance reproducibility and accessibility of PGS data for global research.