Meta-analyses of genome-wide association studies identify multiple novel loci associated with pulmonary function
By D. Hancock, M. Eijgelsheim, J. Wilk, S. Gharib, Laura R. Loehr, K. Marciante, N. Franceschini, Y. V. Durme, Ting-hsu Chen, R. Barr and 18 more. Nature Genetics, 2009
629 citations recorded by the source corpus.
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 (FEV1) and its ratio to forced vital capacity (FEV1/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 FEV1/FVC (HHIP, GPR126, ADAM19, AGER-PPT2, FAM13A, PTCH1, PID1 and HTR4) and one locus associated with FEV1 (INTS12-GSTCD-NPNT) at or near genome-wide significance (P < 5 × 10−8) in the CHARGE Consortium dataset. Our findings may offer insights into pulmonary function and pathogenesis of chronic lung disease.
Subfields: Molecular Biology, Physiology, Pulmonary and Respiratory Medicine
View Paper: https://www.semanticscholar.org/paper/99c46d7cc3bbc778e54117c4468985219f33e137
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Citations in the corpus
- Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank (2015, methodology): “For each FEV1 comparison and heavy smokers vs never smokers, we ran two SKAT-O tests including two classes of variants: (1) loss of function (LoF) and missense variants with MAF <5%, and (2) LoF and missense variants with MAF <5%, which were predicted by SIFT 52 to be ‘deleterious’ or by PolyPhen-2 ”
- The Genetics of Asthma and Allergic Disease: A 21st Century Perspective (2011, result): “Two metaanalyses for lung function (FEV1 and FEV1 ⁄ FVC ratio) have been reported by the SpiroMeta (69) and CHARGE (70) Consortiums.”