Heritability of pulmonary function estimated from genome-wide SNPs in healthy Japanese adults.
BACKGROUND
Pulmonary function is a heritable trait, and recent genome-wide association studies (GWASs) have identified a number of loci influencing the trait. Genome-wide Complex Trait Analysis (GCTA) is a novel method provided by a software package that estimates the total additive genetic influence caused by common single nucleotide polymorphisms (SNPs) on whole-genome arrays. We conducted a GWAS and assessed the heritability of pulmonary function in an adult Japanese population using this approach.


METHODS
We initially conducted a GWAS on %forced vital capacity (FVC), %forced expiratory volume (FEV1) and FEV1/FVC in healthy Japanese adults (N=967). We then examined the heritability of these traits using GCTA with a total of 480,026 SNPs. We also estimated the genetic impact of the 24 genes identified as susceptibility genes to FEV1/FVC in six previous GWASs on the heritability of FEV1/FVC in the Japanese population.


RESULTS
The heritabilities for %FVC, %FEV1, and FEV1/FVC were 71.2%, 51.9% and 41.6%, respectively. These results corresponded to previous heritability estimates for pulmonary function obtained by GCTA or by twin studies. The 24 previously reported pulmonary function genes accounted for 4.3-12.0% of the entire estimated heritability of FEV1/FVC.


CONCLUSIONS
This study demonstrated that the heritability of pulmonary function traits can be explained by the additive effects of multiple common SNPs in healthy Japanese adults. The pulmonary function genes reported in previous GWASs of non-Japanese populations showed a definite impact of the genes on FEV1/FVC, thus indicating the presence of common pathways related to this trait beyond ethnicity.
Department of Pulmonology, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tennodai 1-1-1, Tsukuba, Ibaraki 305-8577, Japan. Electronic address: hide_fineday@yahoo.co.jp.
Hideyasu
H
Yamada
Department of Pulmonology, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tennodai 1-1-1, Tsukuba, Ibaraki 305-8577, Japan. Electronic address: yohei820yatagai@yahoo.co.jp.
Yohei
Y
Yatagai
Department of Pulmonology, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tennodai 1-1-1, Tsukuba, Ibaraki 305-8577, Japan. Electronic address: hironori816@yahoo.co.jp.
Hironori
H
Masuko
Department of Pulmonology, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tennodai 1-1-1, Tsukuba, Ibaraki 305-8577, Japan. Electronic address: t-saka@md.tsukuba.ac.jp.
Tohru
T
Sakamoto
Tsukuba Medical Center, Tsukuba Medical Center, Amakubo 1-3-1, Tsukuba, Ibaraki 305-8558, Japan. Electronic address: hiijima-alg@umin.ac.jp.
Hiroaki
H
Iijima
Tsukuba Medical Center, Tsukuba Medical Center, Amakubo 1-3-1, Tsukuba, Ibaraki 305-8558, Japan. Electronic address: naitota@tmch.or.jp.
Takashi
T
Naito
Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tennodai 1-1-1, Tsukuba, Ibaraki 305-8577, Japan. Electronic address: enoguchi@md.tsukuba.ac.jp.
Emiko
E
Noguchi
Laboratory for Respiratory Diseases, Center for Genomic Medicine, Institute of Physical and Chemical Research, Suehiro 1-7-22, Tsurumi, Yokohama, Kanagawa 230-0045, Japan. Electronic address: thirota@src.riken.jp.
Tomomitsu
T
Hirota
Laboratory for Respiratory Diseases, Center for Genomic Medicine, Institute of Physical and Chemical Research, Suehiro 1-7-22, Tsurumi, Yokohama, Kanagawa 230-0045, Japan. Electronic address: tamari@src.riken.jp.
Mayumi
M
Tamari
Department of Pulmonology, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tennodai 1-1-1, Tsukuba, Ibaraki 305-8577, Japan. Electronic address: nhizawa@md.tsukuba.ac.jp.
Nobuyuki
N
Hizawa
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D005260:Female; D005541:Forced Expiratory Volume / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D008168:Lung / Q000502:physiology*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D019655:Quantitative Trait, Heritable; D012129:Respiratory Function Tests; D014797:Vital Capacity / Q000235:genetics*
Genome-wide Complex Trait Analysis; Heritability; Japanese; Pulmonary function