Genome-wide association study identifies five loci associated with lung function
Copyright policy )Genome-wide association study identifies five loci associated with lung function
Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD). We tested genome-wide association with forced expiratory volume in 1 s (FEV(1)) and the ratio of FEV(1) to forced vital capacity (FVC) in the SpiroMeta consortium (n = 20,288 individuals of European ancestry). We conducted a meta-analysis of top signals with data from direct genotyping (n < or = 32,184 additional individuals) and in silico summary association data from the CHARGE Consortium (n = 21,209) and the Health 2000 survey (n < or = 883). We confirmed the reported locus at 4q31 and identified associations with FEV(1) or FEV(1)/FVC and common variants at five additional loci: 2q35 in TNS1 (P = 1.11 x 10(-12)), 4q24 in GSTCD (2.18 x 10(-23)), 5q33 in HTR4 (P = 4.29 x 10(-9)), 6p21 in AGER (P = 3.07 x 10(-15)) and 15q23 in THSD4 (P = 7.24 x 10(-15)). mRNA analyses showed expression of TNS1, GSTCD, AGER, HTR4 and THSD4 in human lung tissue. These associations offer mechanistic insight into pulmonary function regulation and indicate potential targets for interventions to alleviate respiratory disease.
- Institut Pasteur France
- French National Centre for Scientific Research France
- Tampere University Finland
- University of Southampton United Kingdom
- University of Oxford United Kingdom
Male, receptor, keuhkotoiminnot, Messenger, Vital Capacity, Receptor for Advanced Glycation End Products, 5-HT4, VARIANTS, Pulmonary Disease, Chronic Obstructive, HEIGHT, 920115 Respiratory System and Diseases (incl. Asthma), Immunologic, NSHD Respiratory Study Team, Forced Expiratory Volume, Tensins, Receptors, Receptors, Immunologic, Lung, POPULATION, Glutathione Transferase, variants, Genome, Gerontologia ja kansanterveys, Microfilament Proteins, health, Single Nucleotide, CANCER, Respiratory Function Tests, Wellcome Trust Case Control Consortium, Female, HEALTH, Gerontology and Public Health, Human, Chronic Obstructive, Serotonin, 572, 610, in-vitro, 970111 Expanding Knowledge in the Medical and Health Sciences, Polymorphism, Single Nucleotide, Pulmonary Disease, C1, Meta-Analysis as Topic, 616, cancer, Humans, RNA, Messenger, Polymorphism, Mortality, ADVANCED GLYCATION ENDPRODUCTS, geenit, RECEPTOR, Height, Genome, Human, MORTALITY, Gene Expression Profiling, IN-VITRO, Lung function, Spirometry, 970106 Expanding Knowledge in the Biological Sciences, RNA, IDIOPATHIC PULMONARY-FIBROSIS, Receptors, Serotonin, 5-HT4, genetic, Thrombospondins, genome-wide association study; lung function, 060405 Gene Expression (incl. Microarray and other genome-wide approaches), Genome-Wide Association Study
Male, receptor, keuhkotoiminnot, Messenger, Vital Capacity, Receptor for Advanced Glycation End Products, 5-HT4, VARIANTS, Pulmonary Disease, Chronic Obstructive, HEIGHT, 920115 Respiratory System and Diseases (incl. Asthma), Immunologic, NSHD Respiratory Study Team, Forced Expiratory Volume, Tensins, Receptors, Receptors, Immunologic, Lung, POPULATION, Glutathione Transferase, variants, Genome, Gerontologia ja kansanterveys, Microfilament Proteins, health, Single Nucleotide, CANCER, Respiratory Function Tests, Wellcome Trust Case Control Consortium, Female, HEALTH, Gerontology and Public Health, Human, Chronic Obstructive, Serotonin, 572, 610, in-vitro, 970111 Expanding Knowledge in the Medical and Health Sciences, Polymorphism, Single Nucleotide, Pulmonary Disease, C1, Meta-Analysis as Topic, 616, cancer, Humans, RNA, Messenger, Polymorphism, Mortality, ADVANCED GLYCATION ENDPRODUCTS, geenit, RECEPTOR, Height, Genome, Human, MORTALITY, Gene Expression Profiling, IN-VITRO, Lung function, Spirometry, 970106 Expanding Knowledge in the Biological Sciences, RNA, IDIOPATHIC PULMONARY-FIBROSIS, Receptors, Serotonin, 5-HT4, genetic, Thrombospondins, genome-wide association study; lung function, 060405 Gene Expression (incl. Microarray and other genome-wide approaches), Genome-Wide Association Study
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