April 25, 2018
RIKEN
Osaka University
Keio University School of Medicine
Japan Agency for Medical Research and Development
A joint research group, led by Team Leader Yoichiro Kamatani of the Laboratory for Statistical Analysis at the RIKEN Center for Integrative Medical Sciences, Professor Yukinori Okada of the Department of Statistical Genetics at Osaka University Graduate School of Medicine, Guest Professor (Part-time) Nobuyoshi Hirose of the Center for Supercentenarian Medical Research at Keio University School of Medicine, and Professor Kenjiro Kosaki of the university's Center for Medical Genetics, has conducted a whole-genome sequencing analysis of 2,200 Japanese individuals and identified genomic regions related to adaptive evolution in the Japanese population.
Adaptive evolution is the phenomenon by which the traits of an organism change over generations in response to its environment. In the process of adaptive evolution, changes occur in the diversity of the genome sequence, which is the blueprint of an organism. Therefore, by examining the diversity of genome sequences in a human population, we can learn which genomic regions have adapted to environmental changes and how the population has evolved genetically.
In this study, the joint research group analyzed adaptive evolution based on genome sequence information from 2,200 Japanese individuals collected by BioBank Japan and the Center for Supercentenarian Medical Research at Keio University School of Medicine. By performing whole-genome sequencing analysis and examining the distribution of low-frequency genetic variants within the population, they identified four genomic regions that have been targets of adaptive evolution over the past several thousand years. It was also revealed that these genetic variants have different frequencies in various regions of Japan, particularly in the Okinawa region.
Furthermore, when the researchers investigated the strength of adaptive evolution in genetic variants known to affect disease onset and clinical test values in the Japanese population, they found that genetic variants affecting traits related to alcohol metabolism, such as alcohol consumption, and nutrient metabolism, such as lipids, blood sugar levels, and uric acid levels, were the main targets of adaptive evolution. This result differs from that of other human populations, suggesting the existence of adaptive evolution unique to the Japanese population.
These findings are expected to contribute to elucidating the history of the Japanese people and promoting health by considering their genetic background. Additionally, the construction of larger-scale whole-genome sequencing data is expected to lead to further clarification of adaptive evolution.
The results of this research were published in the British online scientific journal "Nature Communications" on April 24.
The whole-genome sequencing information from this study will be made public through the Japanese population genome-related analysis information database "Jenger," which was constructed by the National Bioscience Database Center (NBDC) of the Japan Science and Technology Agency (JST) and the Laboratory for Statistical Analysis at the RIKEN Center for Integrative Medical Sciences.
This research was conducted with support from the "Program for the Realization of Tailor-made Medicine" of the Japan Agency for Medical Research and Development (AMED).
Please see below for the full press release.