Modern Japanese people arose from 3 ancestral groups, 1 of them unknown, DNA study suggests

The research also reveals genetic ties with our closest extinct relatives — the Neanderthals and Denisovans — and how these genes may affect present-day disease risk.

In one of the largest non-European analyses of its kind, scientists sequenced the DNA of more than 3,200 Japanese people across seven regions of the country, extending from the snowy mountains of Hokkaido in the north to the subtropical southern shores of Okinawa.

The researchers collated these genetic data, along with relevant clinical information, into a large new database called the Japanese Encyclopedia of Whole-Genome/Exome Sequencing Library (JEWEL).

The new analysis also revealed 42 pieces of DNA that Japanese people inherited from Neanderthals and two from Denisovans that could be linked to complex traits, meaning those that are encoded by multiple genes.

Until recently, large-scale genetic sequencing research has focused on analyzing DNA from people of European descent, leaving a significant gap in our understanding of other human populations, including those in Asia.

Clinical information was available for three of these individuals, who experienced several of the same health conditions, including having heart attacks, kidney failure and high blood pressure.