Characterizing rare and low-frequency height-associated variants in the Japanese population

Masato Akiyama, Kazuyoshi Ishigaki, Saori Sakaue, Yukihide Momozawa, Momoko Horikoshi, Makoto Hirata, Koichi Matsuda, Shiro Ikegawa, Atsushi Takahashi, Masahiro Kanai, Sadao Suzuki, Daisuke Matsui, Mariko Naito, Taiki Yamaji, Motoki Iwasaki, Norie Sawada, Kozo Tanno, Makoto Sasaki, Atsushi Hozawa, Naoko Minegishi, Kenji Wakai, Shoichiro Tsugane, Atsushi Shimizu, Masayuki Yamamoto, Yukinori Okada, Yoshinori Murakami, Michiaki Kubo and Yoichiro Kamatani ()
Additional contact information
Masato Akiyama: RIKEN Center for Integrative Medical Sciences
Kazuyoshi Ishigaki: RIKEN Center for Integrative Medical Sciences
Saori Sakaue: RIKEN Center for Integrative Medical Sciences
Yukihide Momozawa: RIKEN Center for Integrative Medical Sciences
Momoko Horikoshi: RIKEN Center for Integrative Medical Sciences
Makoto Hirata: The University of Tokyo
Koichi Matsuda: The University of Tokyo
Shiro Ikegawa: RIKEN Center for Integrative Medical Sciences
Atsushi Takahashi: RIKEN Center for Integrative Medical Sciences
Masahiro Kanai: RIKEN Center for Integrative Medical Sciences
Sadao Suzuki: Nagoya City University Graduate School of Medical Sciences
Daisuke Matsui: Graduate School of Medical Science
Mariko Naito: Nagoya University Graduate School of Medicine
Taiki Yamaji: National Cancer Center
Motoki Iwasaki: National Cancer Center
Norie Sawada: National Cancer Center
Kozo Tanno: Iwate Medical University
Makoto Sasaki: Iwate Medical University
Atsushi Hozawa: Tohoku University
Naoko Minegishi: Tohoku University
Kenji Wakai: Nagoya University Graduate School of Medicine
Shoichiro Tsugane: National Cancer Center
Atsushi Shimizu: Iwate Medical University
Masayuki Yamamoto: Tohoku University
Yukinori Okada: RIKEN Center for Integrative Medical Sciences
Yoshinori Murakami: The University of Tokyo
Michiaki Kubo: RIKEN Center for Integrative Medical Sciences
Yoichiro Kamatani: RIKEN Center for Integrative Medical Sciences

Nature Communications, 2019, vol. 10, issue 1, 1-11

Abstract: Abstract Human height is a representative phenotype to elucidate genetic architecture. However, the majority of large studies have been performed in European population. To investigate the rare and low-frequency variants associated with height, we construct a reference panel (N = 3,541) for genotype imputation by integrating the whole-genome sequence data from 1,037 Japanese with that of the 1000 Genomes Project, and perform a genome-wide association study in 191,787 Japanese. We report 573 height-associated variants, including 22 rare and 42 low-frequency variants. These 64 variants explain 1.7% of the phenotypic variance. Furthermore, a gene-based analysis identifies two genes with multiple height-increasing rare and low-frequency nonsynonymous variants (SLC27A3 and CYP26B1; PSKAT-O

Date: 2019
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DOI: 10.1038/s41467-019-12276-5

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