Polygenic risk scores (PRS), which look at the effects of thousands of variants across a person’s DNA, have been making headlines in the medical community as a potential predictor for hundreds of diseases. But a recent study published in Respiratory Medicine has shown one area where PRS comes up short compared to more traditional methods: COPD prediction.
Results are detailed in the paper, “Relationships Between Bronchodilator Responsiveness, a COPD Polygenic Risk Score and COPD Progression.”
The study examined data from the COPDGene Study featuring participants with a smoking history and normal spirometry at study enrollment. All 4,824 participants, adults aged 45 to 80 years, had a less than ten-pack-per-year smoking history.
The researchers found that among individuals with a history of smoking and normal spirometry, bronchodilator responsiveness (BDR) was more strongly associated with lung function decline than PRS. In addition, they found that prediction models incorporating BDR were more accurate than those using PRS alone.
Mediation analysis of the data showed that approximately one-third of the effect of PRS on lung function decline in non-Hispanic white participants was explained through BDR.
Ultimately, the researchers concluded that BDR is more strongly associated with progression to COPD and forced expiratory volume in 1 second (FEV1) decline than PRS. Part of the PRS effect, they found, is mediated through BDR.
