studies Study Report - Meta-analysis of pulmonary function (HGVST498)
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HGVbaseG2P identifier HGVST498
Study name Meta-analysis of pulmonary function
Phenotype(s) tested
Forced expiratory volume in one second
Forced expiratory volume in one second/forced vital capacity ratio
Study design Quantitative trait analysis with replication
Genotype Platforms Affymetrix & Illumina 2,534,500 (imputed)
Abstract Spirometric measures of lung function are heritable traits that reflect respiratory health and predict morbidity and mortality. We meta-analyzed genome-wide association studies for two clinically important lung-function measures: forced expiratory volume in the first second (FEV(1)) and its ratio to forced vital capacity (FEV(1)/FVC), an indicator of airflow obstruction. This meta-analysis included 20,890 participants of European ancestry from four CHARGE Consortium studies: Atherosclerosis Risk in Communities, Cardiovascular Health Study, Framingham Heart Study and Rotterdam Study. We identified eight loci associated with FEV(1)/FVC (HHIP, GPR126, ADAM19, AGER-PPT2, FAM13A, PTCH1, PID1 and HTR4) and one locus associated with FEV(1) (INTS12-GSTCD-NPNT) at or near genome-wide significance (P < 5 x 10(-8)) in the CHARGE Consortium dataset. Our findings may offer insights into pulmonary function and pathogenesis of chronic lung disease.
Submission information
ContributorDate
Submitted
Author? Submitter? Source?
NHGRI GWAS catalog 2010-05-14 no no yes
HGVbaseG2P 2010-05-14 no yes no
Hancock DB et al. 2010-05-14 yes no no
Cross-references NHGRI GWAS catalog study annotation for HGVST498link
Background Not supplied  
Objectives Not supplied
Key results Not supplied
Conclusions Not supplied
Reason for study size Not supplied
Study power Not supplied
Sources of bias Not supplied
Limitations Not supplied
Acknowledgements Not supplied
Other citations
Hindorff LA, Sethupathy P, Junkins HA et al.link
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
Proceedings of the National Academy of Sciences U S A. 2009 May 27
Hancock DB, Eijgelsheim M, Wilk JB et al.link
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
Nature genetics 2010;42(1):45-52