Yoichiro Kamatani

A large-scale GWAS in 212,453 Japanese individuals identified 45 novel susceptibility loci for 22 diseases, highlighting the importance of non-European population studies.

This study identifies three new CAD loci through transethnic GWAS and highlights population-specific genetic differences between Japanese and European populations.

This paper identifies 56 new type 2 diabetes loci in 433,540 East Asian individuals through a meta-analysis of GWAS data.

The paper develops MENTR, a machine learning framework to predict cell-type-specific ncRNA transcription from genome sequence, identifying causal variants and ncRNAs associated with complex traits.

This study uses polygenic risk scores from three biobanks to show that genetic susceptibility to traits like high blood pressure and obesity is associated with shorter lifespan.

The paper screens 12,503 Japanese CRC patients and 23,705 controls for germline variants in 27 cancer genes, finding 3.3% of patients have pathogenic variants linked to CRC risk.

This study identifies schizophrenia genetic associations in East Asian and European populations, finding similar genetic effects across ancestries but highlighting challenges in polygenic risk prediction across groups.

This study identifies novel genetic loci for coronary artery disease in Japanese and transethnic populations and develops a polygenic risk score that outperforms population-specific scores.

This study identifies 20 genetic loci associated with kidney stone disease, including novel variants in CYP24A1 and DGKD, which influence vitamin D metabolism and calcium-sensing receptor signaling.

The paper re-examines polygenic adaptation at height-associated loci in Sardinians and mainland Europeans using UKB and BBJ data, finding evidence of adaptation in Sardinians and a subtle signal in mainland Europeans.

The paper identifies a batch effect in 1000 Genomes Project data causing spurious mutation calls and affecting GWAS results, suggesting legacy data may need to be retired or upgraded.

The paper identifies a common variant in the Japanese population that shows quasi-Mendelian inheritance patterns in rare retinal ciliopathy.

This study analyzes genomic mutations in clonal hematopoiesis across 179,417 Japanese individuals, revealing population-specific patterns and differences in cancer risk.

Eurocentric GWAS make polygenic scores less accurate in non-Europeans (mean 4.9-fold lower for UK Biobank Africans); equal-sized ancestry-matched GWAS predict better in Japanese and British individuals.

This study identifies 14 nephrolithiasis susceptibility loci in the Japanese population, including 9 novel loci, and links them to metabolic and crystallization pathways.

The paper identifies genetic determinants of mosaic Y chromosome loss in blood and links it to genomic instability and non-haematological cancer risk.

This study identifies 93 genetic loci associated with kidney function across four ancestry groups and highlights causal effects on kidney-related diseases.

Genetic correlations across 25 brain disorders (215,683 cases) reveal broad psychiatric common-variant sharing, largely distinct neurological disorders, and migraine as the only significant cross-category link.

This study identifies 26 genetic loci associated with reproductive ageing in a Japanese population, highlighting differences in allele frequencies and effect estimates compared to European populations.