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

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 < 2.5 × 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.

journal_name

Nat Commun

journal_title

Nature communications

authors

Akiyama M,Ishigaki K,Sakaue S,Momozawa Y,Horikoshi M,Hirata M,Matsuda K,Ikegawa S,Takahashi A,Kanai M,Suzuki S,Matsui D,Naito M,Yamaji T,Iwasaki M,Sawada N,Tanno K,Sasaki M,Hozawa A,Minegishi N,Wakai K,Tsugane S

doi

10.1038/s41467-019-12276-5

subject

Has Abstract

pub_date

2019-09-27 00:00:00

pages

4393

issue

1

issn

2041-1723

pii

10.1038/s41467-019-12276-5

journal_volume

10

pub_type

杂志文章

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