RIKEN Finds 3rd Japanese Ancestry in 3,200 Genomes, Linking 44 Archaic DNA Regions to Disease
Updated
Updated · ScienceDaily · May 14
RIKEN Finds 3rd Japanese Ancestry in 3,200 Genomes, Linking 44 Archaic DNA Regions to Disease
1 articles · Updated · ScienceDaily · May 14
More than 3,200 whole genomes from seven Japanese regions showed modern Japanese ancestry is tripartite, not just a Jomon-plus-migrant mix, with a third component tied to northeastern Asia and possibly the ancient Emishi.
Whole-genome sequencing—offering about 3,000 times more data than older microarrays—also mapped fine regional structure: Jomon ancestry reached 28.5% in Okinawa versus 13.4% in western Japan, where Han Chinese links were stronger.
The study identified 44 Neanderthal- and Denisovan-derived DNA regions still present in Japanese people, including a Denisovan segment in NKX6-1 associated with type 2 diabetes and possible semaglutide response differences.
Researchers also found 11 Neanderthal-derived segments tied to coronary artery disease, prostate cancer and rheumatoid arthritis, alongside Japanese-specific variants in genes linked to hypertension, kidney failure, hearing loss and liver disease.
RIKEN said the findings could sharpen personalized medicine and help correct the heavy European bias in global genomic databases by expanding Asian whole-genome data through its JEWEL database.
Archaic human DNA still affects our health. What does this discovery mean for treating modern diseases in Japan?
How will Japan's new 'tripartite origins' theory reshape its cultural narrative of a single, homogeneous people?
With genomic data now cheaper than ever, can Japan's new AI-driven medicine truly deliver personalized cures for its aging population?
Japan’s Tripartite Genetic Origins Revealed: Landmark 2026 RIKEN Study Maps Ancestry, Regional Diversity, and Archaic DNA Health Links
Overview
A groundbreaking study by RIKEN researchers has transformed our understanding of Japan’s genetic history by establishing a new tripartite origins theory. By analyzing DNA samples from seven regions across Japan and using advanced whole-genome sequencing technology, the team gathered far more genetic information than ever before. They combined this data with detailed medical histories, disease diagnoses, family trees, and clinical test results to build the Japanese Encyclopedia of Whole-Genome/Exome Sequencing Library (JEWEL). This comprehensive approach revealed three distinct ancestral groups, offering a clearer and more nuanced picture of Japan’s complex genetic heritage.