Masato Akiyama

Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries.

This paper develops and validates multi-ancestry polygenic risk scores for type 2 diabetes prediction and complications across diverse populations.

Genotype imputation accuracy and the quality metrics of the minor ancestry in multi-ancestry reference panels

The paper evaluates genotype imputation accuracy in multi-ancestry reference panels and finds that the Rsq metric overestimates dosage r2 due to systematic bias in imputation quality.

Implicating genes, pleiotropy and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

This study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

This study identifies 12,111 SNPs associated with height from 5.4 million individuals, explaining most common SNP-based heritability and showing ancestry-specific prediction accuracy.

Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

This study identifies 277 T2D loci using diverse populations and improves fine-mapping to assess causal genes and mechanisms, enhancing clinical translation.

A global atlas of genetic associations of 220 deep phenotypes

Cross-population GWAS of 220 phenotypes in BioBank Japan, UK Biobank, and FinnGen (n=628,000) identifies 5,343 previously unreported loci and decomposes summary statistics into latent genetic components for disease subtyping.

Trans-ancestry genome-wide analysis of atrial fibrillation provides new insights into disease biology and enables polygenic prediction of cardioembolic risk

This paper identifies new genetic loci for atrial fibrillation through a trans-ancestry meta-analysis and develops a polygenic risk score linked to cardioembolic risk.

Multi-Ancestry Meta-Analysis yields novel genetic discoveries and ancestry-specific associations

This paper introduces MAMA, a method for multi-ancestry GWAS meta-analysis, which identifies novel genetic associations and improves power across populations.

Genetically independent phenotype analysis identifies LPA and VCAM1 as drug targets for human ageing

This study combines multiple GWAS of ageing traits to identify genetic components associated with human ageing and finds LPA and VCAM1 as potential drug targets.

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

The Polygenic and Monogenic Basis of Blood Traits and Diseases

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

Genome-wide association meta-analysis identifies novel GP2 gene risk variants for pancreatic cancer in the Japanese population

Large scale genome-wide association study in a Japanese population identified 45 novel susceptibility loci for 22 diseases

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.

Transethnic meta-analysis of genome-wide association studies identifies three new loci and characterizes population-specific differences for coronary artery disease

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

Identification of type 2 diabetes loci in 433,540 East Asian individuals

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

Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan

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.

Systematic detection of Mendelian and non-Mendelian variants associated with retinitis pigmentosa by genome-wide association study

This study uses GWAS to identify Mendelian and non-Mendelian variants associated with retinitis pigmentosa, uncovering new genetic causes and therapeutic targets.

Population-specific and transethnic genome-wide analyses reveal distinct and shared genetic risks of coronary artery disease

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.

Evidence of polygenic adaptation at height-associated loci in mainland Europeans and Sardinians

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.

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

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

The genomic landscape of clonal hematopoiesis in Japan

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

Elucidating the genetic architecture of reproductive ageing in the Japanese population

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.