2025 Volume 63 Issue 2 Pages 61-69
This review summarizes the latest findings in disease biomarker discovery based on human genome analysis and microbiome studies. The genome-wide association study (GWAS) meta-analysis conducted through international biobank collaboration has identified approximately 5,000 novel loci by analyzing diverse genetic backgrounds, including non-European populations. It also elucidated genetic correlations between diseases, paving the way for re-evaluating disease classifications and proposing new therapeutic targets. Additionally, polygenic risk scores (PRS) for cancer have demonstrated potential as promising biomarkers for early detection and prevention through genetic risk assessment. Furthermore, integrative analyses of the gut microbiome, including bacteria and viruses, have revealed the unique microbial diversity of Japanese populations and its close association with diseases. These findings contribute to elucidating disease mechanisms and building the foundation for personalized medicine, while offering important directions for future medical and drug discovery applications. Moreover, these findings highlight the need for further studies on non-European populations and the causal relationships between the microbiome and host interactions.
