New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

Benjamin B. Sun | Blair H. Smith | M. Jarvelin | J. Danesh | C. Gieger | I. Deary | L. Wain | N. Shrine | Victoria E. Jackson | R. Allen | J. Cook | M. Obeidat | Y. Bossé | K. Hao | I. Sayers | A. Hansell | E. Zeggini | A. Morris | D. Strachan | M. Tobin | I. Hall | T. Lehtimäki | D. DeMeo | J. Hokanson | T. Beaty | E. Silverman | J. Crapo | O. Troyanskaya | Jian Zhou | D. Nickle | A. Gulsvik | E. Bleecker | M. Imboden | N. Probst-Hensch | Stefan Enroth | O. Raitakari | J. Hui | A. James | J. Whittaker | L. Lind | I. Rudan | D. Porteous | N. Wareham | I. Surakka | A. Mahajan | D. Sin | P. Bakke | M. Cho | R. Tal-Singer | G. Homuth | F. Dudbridge | S. Harris | C. Hayward | P. Joshi | O. Polašek | V. Vitart | M. Kähönen | James F. Wilson | J. Marten | J. Luan | R. Scott | S. Weiss | C. Langenberg | R. Rawal | D. Meyers | J. Zhao | U. Gyllensten | M. Soler Artigas | S. Karrasch | H. Schulz | Zhengming Chen | Liming Li | A. Butterworth | R. Ewert | H. Runz | L. Yerges-Armstrong | D. Sparrow | A. Murray | Xingnan Li | K. Song | P. Sakornsakolpat | D. Prokopenko | N. Reeve | A. Guyatt | D. Qiao | B. Hobbs | J. Maranville | M. Wielscher | P. Woodruff | C. Batini | S. Kerr | C. Brandsma | M. Parker | M. van den Berge | R. Walters | R. Packer | C. Melbourne | N. Locantore | Kuang Lin | Joshua D Hoffman | P. Timmers | K. Kentistou | R. Boxall | Victoria E Jackson | A. Erzurumluoglu | P. Joubert | K. Fawcett | Xuan Li | M. Paynton | B. Stubbe | Megan L Paynton | V. Jackson | D. Demeo | Kijoung Song | B. Sun | Megan L. Paynton | Ruth Boxall | M. Kähönen | R. Scott | A. Morris | R. Scott | María Soler Artigas | S. Harris | R. Scott | A. Morris

[1]  Benjamin B. Sun,et al.  Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries , 2019, Nature Genetics.

[2]  E. Hoffman,et al.  Genome-wide association study of lung function and clinical implication in heavy smokers , 2018, BMC Medical Genetics.

[3]  Lauren S. Mogil,et al.  Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function , 2018, Nature Communications.

[4]  Stephen Burgess,et al.  Genomic atlas of the human plasma proteome , 2018, Nature.

[5]  P. Visscher,et al.  Meta-analysis of genome-wide association studies for height and body mass index in ∼700,000 individuals of European ancestry , 2018, bioRxiv.

[6]  Alex H. Wagner,et al.  DGIdb 3.0: a redesign and expansion of the drug–gene interaction database , 2017, bioRxiv.

[7]  D. Isenberg,et al.  Efficacy and Safety of Atacicept in Patients With Systemic Lupus Erythematosus , 2017, Arthritis & rheumatology.

[8]  A. Nordgren,et al.  Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies , 2017, Scientific Reports.

[9]  Manuel A. R. Ferreira,et al.  Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology , 2017, Nature Genetics.

[10]  Nicola J. Rinaldi,et al.  Genetic effects on gene expression across human tissues , 2017, Nature.

[11]  Sina A. Gharib,et al.  Multiethnic meta-analysis identifies new loci for pulmonary function , 2017, bioRxiv.

[12]  Dan J Stein,et al.  Global, regional, and national disability-adjusted life-years (DALYs) for 333 diseases and injuries and healthy life expectancy (HALE) for 195 countries and territories, 1990–2016: a systematic analysis for the Global Burden of Disease Study 2016 , 2017, Lancet.

[13]  Mohammad Hossein Khosravi,et al.  Global, regional, and national age-sex specific mortality for 264 causes of death, 1980–2016: a systematic analysis for the Global Burden of Disease Study 2016 , 2017, Lancet.

[14]  S. Goodman,et al.  Integrins as Therapeutic Targets: Successes and Cancers , 2017, Cancers.

[15]  Sina A. Gharib,et al.  Meta-analysis of exome array data identifies six novel genetic loci for lung function , 2018, Wellcome open research.

[16]  T. Vos,et al.  Global, regional, and national incidence and prevalence, and years lived with disability for 328 diseases and injuries in 195 countries, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016 , 2017 .

[17]  P. Donnelly,et al.  Genome-wide genetic data on ~500,000 UK Biobank participants , 2017, bioRxiv.

[18]  C. Sütterlin,et al.  The daughter centriole controls ciliogenesis by regulating Neurl-4 localization at the centrosome , 2017, The Journal of cell biology.

[19]  Fred A. Wright,et al.  Conditional eQTL analysis reveals allelic heterogeneity of gene expression , 2017, Human molecular genetics.

[20]  J. Yates,et al.  The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking , 2017, Journal of Cell Science.

[21]  Lisa Bastarache,et al.  Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics. , 2017, Assay and drug development technologies.

[22]  Meilan K. Han,et al.  A New Approach for Identifying Patients with Undiagnosed Chronic Obstructive Pulmonary Disease , 2017, American journal of respiratory and critical care medicine.

[23]  Harry J de Koning,et al.  Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis , 2017, Nature Genetics.

[24]  J. Mullikin,et al.  Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency , 2017, Human Genetics.

[25]  P. D. Bakker,et al.  Resetting the bar: Statistical significance in whole‐genome sequencing‐based association studies of global populations , 2017, Genetic epidemiology.

[26]  Christian Gieger,et al.  Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets , 2017, Nature Genetics.

[27]  Sina A. Gharib,et al.  Evidence for large-scale gene-by-smoking interaction effects on pulmonary function , 2017, International journal of epidemiology.

[28]  Helen E. Parkinson,et al.  The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog) , 2016, Nucleic Acids Res..

[29]  Jie Huang,et al.  Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps , 2016, Nature Genetics.

[30]  D. Flint,et al.  P112 Discovery of a Novel, High Affinity, Small Molecule αvβ6 Inhibitor for the Treatment of Idiopathic Pulmonary Fibrosis , 2016 .

[31]  J. Rommens,et al.  Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics , 2016, Human molecular genetics.

[32]  P. Paré,et al.  Exome Array Analysis Identifies a Common Variant in IL27 Associated with Chronic Obstructive Pulmonary Disease. , 2016, American journal of respiratory and critical care medicine.

[33]  Joseph K. Pickrell,et al.  Detection and interpretation of shared genetic influences on 42 human traits , 2015, Nature Genetics.

[34]  Robert Paine,et al.  Clinical Significance of Symptoms in Smokers with Preserved Pulmonary Function. , 2016, The New England journal of medicine.

[35]  Tom R. Gaunt,et al.  LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis , 2016, bioRxiv.

[36]  Lorna M. Lopez,et al.  Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation , 2015, Nature Communications.

[37]  N. Laird,et al.  A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry , 2015, BMC Genetics.

[38]  O. Troyanskaya,et al.  Predicting effects of noncoding variants with deep learning–based sequence model , 2015, Nature Methods.

[39]  L. Wain,et al.  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, The Lancet. Respiratory medicine.

[40]  Yakir A Reshef,et al.  Partitioning heritability by functional annotation using genome-wide association summary statistics , 2015, Nature Genetics.

[41]  Mark I. McCarthy,et al.  Evaluating the Performance of Fine-Mapping Strategies at Common Variant GWAS Loci , 2015, PLoS genetics.

[42]  Mulin Jun Li,et al.  Nature Genetics Advance Online Publication a N a Ly S I S the Support of Human Genetic Evidence for Approved Drug Indications , 2022 .

[43]  G. Kempermann.  Faculty Opinions recommendation of Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. , 2015 .

[44]  Jun S. Liu,et al.  The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans , 2015, Science.

[45]  Michael Q. Zhang,et al.  Integrative analysis of 111 reference human epigenomes , 2015, Nature.

[46]  G. von Heijne,et al.  Tissue-based map of the human proteome , 2015, Science.

[47]  Bernadette A. Thomas,et al.  Global, regional, and national age–sex specific all-cause and cause-specific mortality for 240 causes of death, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013 , 2015, The Lancet.

[48]  B. Berger,et al.  Efficient Bayesian mixed model analysis increases association power in large cohorts , 2014, Nature Genetics.

[49]  M. Daly,et al.  LD Score regression distinguishes confounding from polygenicity in genome-wide association studies , 2014, Nature Genetics.

[50]  Lorna M. Lopez,et al.  Genome-wide association analysis identifies six new loci associated with forced vital capacity , 2014, Nature Genetics.

[51]  Richard Leslie,et al.  GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database , 2014, Bioinform..

[52]  Manuel A. R. Ferreira,et al.  Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. , 2014, The Journal of allergy and clinical immunology.

[53]  T. Spector,et al.  Whole Exome Re-Sequencing Implicates CCDC38 and Cilia Structure and Function in Resistance to Smoking Related Airflow Obstruction , 2014, PLoS genetics.

[54]  Christoph Lange,et al.  Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. , 2014, The Lancet. Respiratory medicine.

[55]  M. Peters,et al.  Systematic identification of trans eQTLs as putative drivers of known disease associations , 2013, Nature Genetics.

[56]  J. Teng,et al.  LRRC45 is a centrosome linker component required for centrosome cohesion. , 2013, Cell reports.

[57]  L. Wain,et al.  GSTCD and INTS12 Regulation and Expression in the Human Lung , 2013, PloS one.

[58]  Lisa M LaVange,et al.  Design of the Subpopulations and Intermediate Outcomes in COPD Study (SPIROMICS) , 2013, Thorax.

[59]  P. Froguel,et al.  Meal Frequencies Modify the Effect of Common Genetic Variants on Body Mass Index in Adolescents of the Northern Finland Birth Cohort 1986 , 2013, PloS one.

[60]  Don D. Sin,et al.  Refining Susceptibility Loci of Chronic Obstructive Pulmonary Disease with Lung eqtls , 2013, PloS one.

[61]  Archie Campbell,et al.  Cohort Profile: Generation Scotland: Scottish Family Health Study (GS:SFHS). The study, its participants and their potential for genetic research on health and illness. , 2013, International journal of epidemiology.

[62]  Ralf Herwig,et al.  The ConsensusPathDB interaction database: 2013 update , 2012, Nucleic Acids Res..

[63]  Tom R. Gaunt,et al.  Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models , 2012, Human mutation.

[64]  David C. Nickle,et al.  Lung eQTLs to Help Reveal the Molecular Underpinnings of Asthma , 2012, PLoS genetics.

[65]  C. Barnes,et al.  Genome-Wide Screen for Metabolic Syndrome Susceptibility Loci Reveals Strong Lipid Gene Contribution But No Evidence for Common Genetic Basis for Clustering of Metabolic Syndrome Traits , 2012, Circulation. Cardiovascular genetics.

[66]  P. Visscher,et al.  Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits , 2012, Nature Genetics.

[67]  L. Edwards,et al.  A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. , 2012, Human molecular genetics.

[68]  R. Holle,et al.  [Multimorbidity and successful aging: the population-based KORA-Age study]. , 2011, Zeitschrift fur Gerontologie und Geriatrie.

[69]  Christian Gieger,et al.  Genome-wide association and large scale follow-up identifies 16 new loci influencing lung function , 2011, Nature Genetics.

[70]  Yusuke Nakamura,et al.  Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population , 2011, Nature Genetics.

[71]  P. Visscher,et al.  GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors. , 2011, Human molecular genetics.

[72]  W. Rathmann,et al.  Cohort profile: the study of health in Pomerania. , 2011, International journal of epidemiology.

[73]  P. Visscher,et al.  GCTA: a tool for genome-wide complex trait analysis. , 2011, American journal of human genetics.

[74]  E. Regan,et al.  Genetic Epidemiology of COPD (COPDGene) Study Design , 2011, COPD.

[75]  D. Altshuler,et al.  A map of human genome variation from population-scale sequencing , 2010, Nature.

[76]  Ayellet V. Segrè,et al.  Hundreds of variants clustered in genomic loci and biological pathways affect human height , 2010, Nature.

[77]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[78]  Inês Barroso,et al.  Genome-wide association study identifies five loci associated with lung function , 2010, Nature Genetics.

[79]  Christoph Lange,et al.  Variants in FAM13A are associated with chronic obstructive pulmonary disease , 2010, Nature Genetics.

[80]  A. Hofman,et al.  Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function , 2010, Nature Genetics.

[81]  S. Salvi,et al.  Chronic obstructive pulmonary disease in non-smokers , 2009, The Lancet.

[82]  K. Shianna,et al.  A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci , 2009, PLoS genetics.

[83]  D. Postma,et al.  Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction , 2009, Nature Genetics.

[84]  Mark I. McCarthy,et al.  Genetic Determinants of Height Growth Assessed Longitudinally from Infancy to Adulthood in the Northern Finland Birth Cohort 1966 , 2009, PLoS genetics.

[85]  Scott T. Weiss,et al.  A Genome-Wide Association Study of Pulmonary Function Measures in the Framingham Heart Study , 2009, PLoS genetics.

[86]  I. Rudan,et al.  Genome-wide association study of biochemical traits in Korcula Island, Croatia. , 2009, Croatian medical journal.

[87]  Rosanda Mulić,et al.  "10001 Dalmatians:" Croatia launches its national biobank. , 2009, Croatian medical journal.

[88]  Risto Telama,et al.  Cohort profile: the cardiovascular risk in Young Finns Study. , 2008, International journal of epidemiology.

[89]  Jon Wakefield,et al.  Reporting and interpretation in genome-wide association studies. , 2008, International journal of epidemiology.

[90]  P. Black,et al.  Changes in elastic fibres in the small airways and alveoli in COPD , 2008, European Respiratory Journal.

[91]  S. Heistaro.  Methodology report : Health 2000 survey , 2008 .

[92]  William A. Richardson,et al.  SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout , 2008, Nature Genetics.

[93]  P. Visscher,et al.  The Lothian Birth Cohort 1936: a study to examine influences on cognitive ageing from age 11 to age 70 and beyond , 2007, BMC geriatrics.

[94]  R. Hopkins,et al.  Forced expiratory volume in one second: not just a lung function test but a marker of premature death from all causes , 2007, European Respiratory Journal.

[95]  Meena Kumari,et al.  Lifecourse influences on health among British adults: effects of region of residence in childhood and adulthood. , 2007, International journal of epidemiology.

[96]  Yurii S. Aulchenko,et al.  BIOINFORMATICS APPLICATIONS NOTE doi:10.1093/bioinformatics/btm108 Genetics and population analysis GenABEL: an R library for genome-wide association analysis , 2022 .

[97]  D. Strachan,et al.  Childhood chest illness and the rate of decline of adult lung function between ages 35 and 45 years. , 2007, American journal of respiratory and critical care medicine.

[98]  J Vestbo,et al.  Developing COPD: a 25 year follow up study of the general population , 2006, Thorax.

[99]  Lars Lind,et al.  A Comparison of Three Different Methods to Evaluate Endothelium-Dependent Vasodilation in the Elderly: The Prospective Investigation of the Vasculature in Uppsala Seniors (PIVUS) Study , 2005, Arteriosclerosis, thrombosis, and vascular biology.

[100]  R Holle,et al.  KORA - A Research Platform for Population Based Health Research , 2005, Gesundheitswesen (Bundesverband der Arzte des Offentlichen Gesundheitsdienstes (Germany)).

[101]  C. Gieger,et al.  KORA-gen - Resource for Population Genetics, Controls and a Broad Spectrum of Disease Phenotypes , 2005 .

[102]  M. Imboden,et al.  Follow-up of the Swiss Cohort Study on Air Pollution and Lung Diseases in Adults (SAPALDIA 2) 1991–2003: methods and characterization of participants , 2005, Sozial- und Präventivmedizin/Social and Preventive Medicine.

[103]  J. Hankinson,et al.  Standardisation of spirometry , 2005, European Respiratory Journal.

[104]  J. Knight,et al.  24. WELLCOME TRUST CENTRE FOR HUMAN GENETICS , 2005 .

[105]  U. Ackermann-Liebrich,et al.  SAPALDIA: Methods and participation in the cross-sectional part of the Swiss Study on Air Pollution and Lung Diseases in Adults , 2005, Sozial- und Präventivmedizin.

[106]  Steven Piantadosi,et al.  A randomized trial comparing lung-volume-reduction surgery with medical therapy for severe emphysema. , 2003, The New England journal of medicine.

[107]  D. Postma,et al.  Chronic obstructive pulmonary disease. , 2002, Clinical evidence.

[108]  P. Burton,et al.  Familial aggregation and heritability of adult lung function: results from the Busselton Health Study. , 2001, The European respiratory journal.

[109]  M. Province,et al.  Evidence for major genes influencing pulmonary function in the NHLBI Family Heart Study , 2000, Genetic epidemiology.

[110]  N. Day,et al.  EPIC-Norfolk: study design and characteristics of the cohort. European Prospective Investigation of Cancer. , 1999, British journal of cancer.

[111]  D. Jarvis,et al.  The European Community Respiratory Health Survey. , 1994, The European respiratory journal.

[112]  P. Rantakallio,et al.  Labour induction policy in hospitals of different levels of specialisation , 1993, British journal of obstetrics and gynaecology.

[113]  J E Cotes,et al.  Lung volumes and forced ventilatory flows. Report Working Party Standardization of Lung Function Tests, European Community for Steel and Coal. Official Statement of the European Respiratory Society. , 1993, The European respiratory journal. Supplement.

[114]  M. Vervenne.  On Methodology. A Report , 1991 .

[115]  R M Gardner,et al.  Performance evaluation of contemporary spirometers. , 1990, Chest.

[116]  P. Rantakallio,et al.  The longitudinal study of the northern Finland birth cohort of 1966. , 1988, Paediatric and perinatal epidemiology.

[117]  Standardization of spirometry--1987 update. Statement of the American Thoracic Society. , 1987, The American review of respiratory disease.

[118]  Albert Damon,et al.  The Normative Aging Study: An Interdisciplinary and Longitudinal Study of Health and Aging , 1972 .

[119]  Brazilian Keynesian Review.  EDITORIAL SUMMARY , 1874, The Canadian Entomologist.