Heritability of pulmonary function estimated from genome-wide SNPs in healthy Japanese adults

Hideyasu Yamada; Yohei Yatagai; Hironori Masuko; Tohru Sakamoto; Hiroaki Iijima; Takashi Naito; Emiko Noguchi; Tomomitsu Hirota; Mayumi Tamari; Nobuyuki Hizawa

doi:10.1016/j.resinv.2014.10.004

Heritability of pulmonary function estimated from genome-wide SNPs in healthy Japanese adults

Respir Investig. 2015 Mar;53(2):60-7. doi: 10.1016/j.resinv.2014.10.004. Epub 2014 Nov 14.

Authors

Affiliations

¹ Department of Pulmonology, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tennodai 1-1-1, Tsukuba, Ibaraki 305-8577, Japan. Electronic address: [email protected].
² Department of Pulmonology, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tennodai 1-1-1, Tsukuba, Ibaraki 305-8577, Japan. Electronic address: [email protected].
³ Department of Pulmonology, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tennodai 1-1-1, Tsukuba, Ibaraki 305-8577, Japan. Electronic address: [email protected].
⁴ Department of Pulmonology, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tennodai 1-1-1, Tsukuba, Ibaraki 305-8577, Japan. Electronic address: [email protected].
⁵ Tsukuba Medical Center, Tsukuba Medical Center, Amakubo 1-3-1, Tsukuba, Ibaraki 305-8558, Japan. Electronic address: [email protected].
⁶ Tsukuba Medical Center, Tsukuba Medical Center, Amakubo 1-3-1, Tsukuba, Ibaraki 305-8558, Japan. Electronic address: [email protected].
⁷ Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tennodai 1-1-1, Tsukuba, Ibaraki 305-8577, Japan. Electronic address: [email protected].
⁸ 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: [email protected].
⁹ 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: [email protected].
¹⁰ Department of Pulmonology, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tennodai 1-1-1, Tsukuba, Ibaraki 305-8577, Japan. Electronic address: [email protected].

PMID: 25745850
DOI: 10.1016/j.resinv.2014.10.004

Abstract

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.

Keywords: Genome-wide Complex Trait Analysis; Heritability; Japanese; Pulmonary function.

MeSH terms

Adult
Aged
Asian People / genetics
Female
Forced Expiratory Volume / genetics*
Genome-Wide Association Study*
Humans
Lung / physiology*
Male
Middle Aged
Polymorphism, Single Nucleotide / genetics*
Quantitative Trait, Heritable*
Respiratory Function Tests*
Vital Capacity / genetics*