期刊
NATURE COMMUNICATIONS
卷 10, 期 -, 页码 -出版社
NATURE PORTFOLIO
DOI: 10.1038/s41467-019-12276-5
关键词
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资金
- BBJ project
- Tohoku Medical Megabank project - Ministry of Education, Culture, Sports, Sciences, and Technology of the Japanese government
- Japan Agency for Medical Research and Development [JP17km0305002, 18km0605001, JP18km0105001, JP18km0105002, JP18km0105003, JP18km0105004]
- National Cancer Center Research and Development Fund since 2011
- Ministry of Health, Labor, and Welfare of Japan
- JSPS KAKENHI Grant from the Japanese Ministry of Education, Science, Sports, Culture, and Technology [16H06277]
- [17015018]
- [221S0001]
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 < 2.5 x 10(-6)). Our analysis shows a general tendency of the effect sizes of rare variants towards increasing height, which is contrary to findings among Europeans, suggesting that height-associated rare variants are under different selection pressure in Japanese and European populations.
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