0000000000649822

AUTHOR

Gemma Cadby

showing 2 related works from this author

Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function

2011

Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 x 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may p…

OncologyVital capacityPROTEINGenome-wide association studyBLOOD-PRESSUREVARIANTSPulmonary function testingPulmonary Disease Chronic Obstructive0302 clinical medicineEpidemiologyIMPUTATIONChild11 Medical and Health SciencesPOPULATIONGenetics & HeredityRISK0303 health scienceseducation.field_of_studyWOMENGENETIC-VARIATION3. Good healthRespiratory Function Testsmedicine.anatomical_structureMedical geneticsLife Sciences & BiomedicineEXPRESSIONmedicine.medical_specialtyMECOMPopulationEuropean Continental Ancestry GroupBiologyOBSTRUCTIVE PULMONARY-DISEASEArticleWhite People03 medical and health sciencesInternal medicineGeneticsmedicineHumanseducationMETAANALYSISPOLYMORPHISMS030304 developmental biologyLungScience & TechnologyMORTALITYGIANT consortiumInternational Lung Cancer Consortium06 Biological Sciences030228 respiratory systemImmunologylung; gene; gwasGenome-Wide Association StudyDevelopmental BiologyNature Genetics
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A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample

2011

Lung function measures are heritable traits that predict population morbidity and mortality and are essential for the diagnosis of chronic obstructive pulmonary disease (COPD). Variations in many genes have been reported to affect these traits, but attempts at replication have provided conflicting results. Recently, we undertook a meta-analysis of Genome Wide Association Study (GWAS) results for lung function measures in 20,288 individuals from the general population (the SpiroMeta consortium). OBJECTIVES: To comprehensively analyse previously reported genetic associations with lung function measures, and to investigate whether single nucleotide polymorphisms (SNPs) in these genomic regions…

PulmonologyChronic Obstructive Pulmonary DiseasesEpidemiologyVital Capacitylcsh:MedicineGenome-wide association studyBioinformaticsPDE4DPulmonary function testingPulmonary Disease Chronic Obstructive0302 clinical medicineForced Expiratory VolumePHOSPHODIESTERASE 4D GENElcsh:ScienceLungRISK0303 health scienceseducation.field_of_studyCOPDMultidisciplinaryAlpha 1-antitrypsin deficiencyGreat BritainALPHA(1)-ANTITRYPSIN DEFICIENCYta3141ta3142respiratory system3142 Public health care science environmental and occupational health3. Good healthRespiratory Function Testsmedicine.anatomical_structureGenetic EpidemiologyScience & Technology - Other TopicsMedicineBiological MarkersHEALTHResearch Articlemedicine.medical_specialtyGeneral Science & TechnologyPopulationObstructive pulmonary-disease; Phosphodiesterase 4D gene; Alpha(1)-antitrypsin deficiency; Health; PDE4D; RiskPolymorphism Single NucleotideOBSTRUCTIVE PULMONARY-DISEASE03 medical and health sciencesMeta-Analysis as TopicMolecular geneticsMD MultidisciplinarymedicineGeneticsGenome-Wide Association StudiesHumansGenetic Predisposition to DiseaseeducationBiology030304 developmental biologyAsthmaScience & TechnologyLungMULTIDISCIPLINARY SCIENCESbusiness.industryGenome Humanlcsh:RSmoking Related DisordersSpiroMeta Consortiummedicine.diseaseUnited KingdomAsthmarespiratory tract diseasesGenetics of Diseaselcsh:Qbusiness030217 neurology & neurosurgeryBiomarkersGenome-Wide Association Study
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