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Summary
This summary is machine-generated.

This study introduces comorbidPGS, an R package for evaluating shared genetic effects between phenotypes using polygenic scores. It reveals significant genetic links between blood pressure and cancer risks, aiding in understanding complex disease predispositions.

Keywords:
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Area of Science:

  • Genetics
  • Bioinformatics
  • Computational Biology

Background:

  • Polygenic scores (PGS) assess genetic liability for complex traits, but their use in identifying shared genetic predispositions between phenotypes is limited.
  • Understanding shared genetic factors between conditions like blood pressure and cancer is crucial for comprehensive risk assessment.

Purpose of the Study:

  • To develop and introduce the comorbidPGS R package for systematically evaluating shared genetic effects between correlated phenotypes using PGS.
  • To investigate the shared genetic predisposition between blood pressure traits and various cancers.

Main Methods:

  • Developed the comorbidPGS R package that utilizes single nucleotide polymorphisms (SNPs) and their effect sizes on a primary phenotype (Po-PGS).
  • Applied the package to analyze shared genetic risks between blood pressure phenotypes (SBP, DBP, pulse pressure) and cancers (breast, pancreatic, kidney, prostate, colorectal).
  • Utilized UK Biobank data and independent GWAS summary statistics from European ancestry individuals.

Main Results:

  • Identified a significant association between elevated diastolic blood pressure (DBP) and the genetic risk of prostate cancer (PrC).
  • Found significant associations between colorectal cancer (CrC) PGS and lower systolic blood pressure (SBP) and DBP.
  • Observed nominally significant associations between genetic predisposition to elevated SBP and increased risk of kidney cancer (KidC) and PrC.

Conclusions:

  • The comorbidPGS package effectively highlights mechanistic relationships between blood pressure regulation and susceptibility to specific malignancies.
  • The findings underscore shared genetic underpinnings between cardiovascular traits and cancer development, offering new avenues for research.
  • ComorbidPGS provides a valuable tool for exploring shared genetic susceptibility across diverse and related phenotypes.