Yusuke Watanabe and Mariko Isshiki (at the time of research) and Associate Professor Jun Ohashi of the Graduate School of Science, the University of Tokyo investigated the genetic population structure of about 11,000 Japanese people at the prefectural level, and examined the genetic structure of modern Japanese people. Was characterized by the degree of mixed blood and geographical location of Jomon and migrants in each prefecture.

 The modern Japanese (Ainu, Ryukyu, and mainlanders) are considered to be descendants of a mixed-race group of Jomon and migrant strains.Previous studies that pointed out genetic heterogeneity between the seven regions of Japan did not include prefectures in the Chugoku-Shikoku region, and the validity of dividing into seven regions and the detailed genetic population structure and its origin were not clear. rice field.In addition, because the genetic heterogeneity between regions is unknown, it was difficult to collect samples avoiding bias due to population stratification in disease gene-related studies in Japanese subjects.

 This time, the research group investigated the genetic population structure of Japanese people using autosomal SNP (single nucleotide polymorphism) genotype data from 11,069 customers of the genome analysis service provided by Yahoo Japan Corporation at 138,688 locations.

 By cluster analysis, 47 prefectures were divided into Okinawa prefecture and other prefectures, and other than Okinawa prefecture, they were roughly divided into three clusters: Kyushu / Chugoku region, Tohoku / Hokkaido region, and Kinki / Shikoku region.Each prefecture in the Kanto and Chubu regions did not fit into one cluster.As a result of principal component analysis, the first principal component was associated with the genetic distance from Okinawa Prefecture, and the second principal component was associated with latitude and longitude.This result suggests that the difference in the degree of mixed race between Jomon people in each prefecture and the migrants from the continent and the geographical positional relationship are the main factors for the formation of genetic regional differences in modern Japanese.

 It is expected that this research will advance the understanding of the formation process of Japanese people and enable the selection of appropriate sample collection areas in disease gene-related research.

Paper information:[Journal of Human Genetics] Prefecture-level population structure of the Japanese based on SNP genotypes of 11,069 individuals

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