News Releases & Research Results Elucidation of genetic features associated with human height in a Japanese population: An approach to uncovering the mysteries of genetic factors associated with human height in a Japanese population utilizing the analysis of 190,000 individuals

Results of the joint research conducted by Principal Investigator Yoichiro Kamatani (Professor of Graduate School of Frontier Sciences, University of Tokyo), Visiting Investigator Masato Akiyama, and Vice Center Director Michiaki Kubo (at the time of the research) of the Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, and Professor Yoshinori Murakami of the Division of Molecular Pathology, Institute of Medical Science, University of Tokyo.

• By analyzing genomes of approximately 190,000 Japanese individuals including participants of BioBank Japan, 573 height-related variants were reported.
• Two height-related genes, SCL27A3 and CYP26B1 were newly identified, with a tendency toward an increase in height shown by their rare variants (suggesting that since variants associated with an increase in human height were subject to natural selection in a Japanese population, a large height might have had an adverse impact on this population).
• These results are expected to promote the understanding of genetic and physiological features associated with differences in height in the Japanese.

This research was supported by Tailor-Made Medical Treatment with the BioBank Japan Project by AMED.

These results were published in the British online journal Nature Communications, dated September 27.

Akiyama M., et al. Characterizing rare and low-frequency height-associated variants in the Japanese population Nature Communications
DOI:10.1038/s41467-019-12276-5