To identify the cause of multifactorial traits such as height and weight (characteristics of multifactorial genetic and environmental factors), we mainly use the "genome-wide association study (GWAS)", a method for comprehensively screening for genetic variations on the genome. Use.However, in the GWAS conducted so far, only the differences in bases that are relatively common in Japanese have been investigated, and the infrequent genetic variation has not been sufficiently investigated due to its low accuracy.In addition, large-scale searches for genetic factors related to height have been focused on Westerners, and studies on Japanese have been limited to small-scale studies.

　This time, the collaborative research group has set up a genetic statistical method, "Whole Genome Impu," so that it is possible to accurately evaluate infrequent genetic variation in Japanese, which was difficult to evaluate by genome analysis of multifactorial traits. A new reference sequence for "tation (prediction of whole genome)" was created.Using this reference sequence, we investigated the genetic factors related to the height of about 19 Japanese people by GWAS, and as a result, we identified 573 genetic variants and newly identified two genes that affect the height.

　Furthermore, it was revealed that low-frequency genetic variation tends to increase height.This is a result suggesting that the genetic variation that increases the height was naturally selected in the Japanese population, which is the exact opposite of the result verified by Westerners, and the height is some disadvantage for the Japanese. It indicates that it may have been influential.

　The results of this research are expected to contribute to the understanding of racial differences in genetic factors related to height and the elucidation of biological mechanisms.

Paper information:[Nature Communications] Characterizing rare and low-frequency height-associated variants in the Japanese population