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A polygenic risk score modifies the cardiovascular risk associated with obstructive sleep apnea

Christian W Thorball1, Adrien Waeber2, Geoffroy Solelhac2

  • 1Precision Medicine Unit, Biomedical Data Science Center, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.

Sleep Advances : a Journal of the Sleep Research Society
|April 30, 2026
PubMed

Insights

A coronary artery disease polygenic risk score (CAD-PRS) improves cardiovascular risk assessment in obstructive sleep apnea (OSA). The risk impact of OSA is highest in those with intermediate genetic risk, enabling better stratification.

Area of Science:

  • Cardiology
  • Genetics
  • Sleep Medicine

Background:

  • Obstructive sleep apnea (OSA) is linked to increased cardiovascular (CV) risk.
  • Current risk assessment tools, like the apnea-hypopnea index (AHI), may not fully capture this elevated risk.
  • Personalized risk prediction is crucial for effective CV event prevention in OSA patients.

Purpose of the Study:

  • To evaluate if a validated coronary artery disease polygenic risk score (CAD-PRS) enhances CV risk stratification in individuals with OSA.
  • To determine if CAD-PRS can refine risk assessment beyond traditional clinical factors and AHI.

Main Methods:

  • Genome-wide genotyping data was used to derive CAD-PRS in 1379 participants from the CoLaus|HypnoLaus cohort.
  • Participants underwent polysomnography to diagnose OSA.
  • Multivariable Cox proportional hazards models assessed associations between OSA, CAD-PRS, clinical factors, and incident CV events.
  • Risk reclassification analyses compared models including CAD-PRS against established clinical risk scores (SCORE2/SCORE2-OP).

Main Results:

  • Over a median follow-up of 7.2 years, 100 CV events occurred.
  • A significant interaction between OSA and CAD-PRS (p=.013) indicated that OSA's CV risk impact varied by genetic risk.
  • OSA conferred significantly higher CV risk in the intermediate genetic risk group (CAD-PRS quintiles 2-4), but not in low or high PRS strata.
  • The integrated model (OSA + CAD-PRS + interaction) significantly improved risk reclassification (Net Reclassification Index 0.171, p=.014), with 52% of intermediate-risk individuals being reclassified.

Conclusions:

  • CAD-PRS significantly aids CV risk stratification in individuals with OSA.
  • The detrimental effect of OSA on CV risk is most pronounced in those with intermediate genetic predisposition.
  • Integrating CAD-PRS with OSA status into clinical risk scores like SCORE2 improves model performance and enables more precise CV risk assessment for OSA patients.
Abstract

Keywords:
cardiovascular riskgeneticgenome-wide association studyobstructive sleep apneapolygenic risk scoresleep disordered breathing

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