Variability in performance of genetic-enhanced DXA-BMD prediction models across diverse ethnic and geographic populations: A risk prediction study.
Yong LiuXiang-He MengChong WuKuan-Jui SuAnqi LiuQing TianLan-Juan ZhaoChuan QiuZhe LuoMartha I Gonzalez-RamirezHui ShenHong-Mei XiaoHong-Wen DengPublished in: PLoS medicine (2024)
In this study, we observed that combining genetic and clinical factors improves BMD prediction compared to clinical factors alone. Adjusting inclusion thresholds for genetic variants (e.g., 5×10-6 or 5×10-7) rather than solely considering genome-wide association study (GWAS)-significant variants can enhance the model's explanatory power. The study highlights the need for training models on diverse populations to improve predictive performance across various ethnic and geographical groups.