2020 Volume 32 Issue 4 Pages 310-317
Recently, genome studies have been progressing remarkably and increased in scale upsizing such as a national projects. The method of applying genomes to pathological elucidation or drug discovery has been explored, and the era of genomic precision medicine is approaching. For example, genetic tests of human leukocyte antigen（HLA）are recommended before administration of specific medicine because some HLA genotypes are associated with severe cutaneous adverse reactions. As for rheumatoid arthritis（RA）, we identified a risk of non-classical HLA genes in addition to that of classical HLA genes previously reported. We also found that HLA genotypes of Japanese individuals consisted of 11 clusters by applying non-linear machine learning. For applying the results of genome-wide association study（GWAS）to precision medicine, studies that predict future disease development based on disease-sensitive single nucleotide polymorphisms are increasing. Our group analyzed the data of international biobanks of approximately 670,000 participants and identified the biomarker associated with a human lifespan. Promotion of preventive medical care is expected to be achieved by comprehensive assessments of such an individual’s genetic risk factor and the known risk factors to identify high-risk groups. As for precision medicine to treat RA, microbiome is attracting attention. We conducted a metagenome-wide association study of the RA gut microbiome by using whole-genome shotgun sequencing. We found the novel characteristics of the RA gut metagenome.
