Schaid Daniel J, McDonnell Shannon K, Akhtari Farida S, Sinnwell Jason P, Batzler Anthony, Cobran Ewan K, Motsinger-Reif Alison
Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55905, USA.
Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55905, USA.
HGG Adv. 2025 Jan 9;6(1):100389. doi: 10.1016/j.xhgg.2024.100389. Epub 2024 Nov 27.
The use of polygenic scores (PGS) for personalized medicine has gained momentum, along with caution to avoid accentuating health disparities. Greater ancestral diversity in genetic studies is needed, as well as close attention to the social determinants of health (SDoH).We measured the correlations between 3,030 PGS from the PGS Catalog and SDoH among participants in the Personalized Environment and Genes Study (PEGS). Correlations mainly ranged from -0.05 to 0.05, yet there was a heterogeneity of correlations across SDoH themes, with the largest amount of heterogeneity for PGS predicting body measures and smoking, as well as some common diseases. We also quantify the expected bias of PGS effect size on disease risk when strong predictors, such as SDoH, are omitted from models, emphasizing the importance of including SDoH with PGS to avoid biased estimates of PGS risk and to achieve equitable precision medicine.
多基因评分(PGS)在个性化医疗中的应用日益受到关注,同时也需要谨慎避免加剧健康差距。基因研究需要更大的祖先多样性,同时要密切关注健康的社会决定因素(SDoH)。我们在个性化环境与基因研究(PEGS)的参与者中测量了PGS目录中的3030个PGS与SDoH之间的相关性。相关性主要在-0.05至0.05之间,但不同SDoH主题的相关性存在异质性,对于预测身体指标、吸烟以及一些常见疾病的PGS,异质性最大。我们还量化了在模型中遗漏SDoH等强预测因素时,PGS效应大小对疾病风险的预期偏差,强调将SDoH与PGS结合以避免PGS风险估计偏差并实现公平精准医疗的重要性。