Childhood asthma is associated with COPD and known asthma variants in COPDGene: a genome-wide association study

Lystra P Hayden, Michael H Cho, Benjamin A Raby, Terri H Beaty, Edwin K Silverman, Craig P Hersh, COPDGene Investigators, James D Crapo, Edwin K Silverman, Barry J Make, Elizabeth A Regan, Terri Beaty, Ferdouse Begum, Peter J Castaldi, Michael Cho, Dawn L DeMeo, Adel R Boueiz, Marilyn G Foreman, Eitan Halper-Stromberg, Lystra P Hayden, Craig P Hersh, Jacqueline Hetmanski, Brian D Hobbs, John E Hokanson, Nan Laird, Christoph Lange, Sharon M Lutz, Merry-Lynn McDonald, Margaret M Parker, Dandi Qiao, Elizabeth A Regan, Edwin K Silverman, Emily S Wan, Sungho Won, Phuwanat Sakornsakolpat, Dmitry Prokopenko, Mustafa Al Qaisi, Harvey O Coxson, Teresa Gray, Mei Lan K Han, Eric A Hoffman, Stephen Humphries, Francine L Jacobson, Philip F Judy, Ella A Kazerooni, Alex Kluiber, David A Lynch, John D Newell Jr, Elizabeth A Regan, James C Ross, Raul San Jose Estepar, Joyce Schroeder, Jered Sieren, Douglas Stinson, Berend C Stoel, Juerg Tschirren, Edwin Van Beek, Bram van Ginneken, Eva van Rikxoort, George Washko, Carla G Wilson, Robert Jensen, Douglas Everett, Jim Crooks, Camille Moore, Matt Strand, Carla G Wilson, John E Hokanson, John Hughes, Gregory Kinney, Sharon M Lutz, Katherine Pratte, Kendra A Young, Surya Bhatt, Jessica Bon, Mei Lan K Han, Barry Make, Carlos Martinez, Susan Murray, Elizabeth Regan, Xavier Soler, Carla G Wilson, Russell P Bowler, Katerina Kechris, Farnoush Banaei-Kashani, Jeffrey L Curtis, Carlos H Martinez, Perry G Pernicano, Nicola Hanania, Philip Alapat, Mustafa Atik, Venkata Bandi, Aladin Boriek, Kalpatha Guntupalli, Elizabeth Guy, Arun Nachiappan, Amit Parulekar, Dawn L DeMeo, Craig Hersh, Francine L Jacobson, George Washko, Graham Barr, John Austin, Belinda D'Souza, Gregory D N Pearson, Anna Rozenshtein, Byron Thomashow, Neil MacIntyre Jr, Page McAdams, Lacey Washington, Charlene McEvoy, Joseph Tashjian, Robert Wise, Robert Brown, Nadia N Hansel, Karen Horton, Allison Lambert, Nirupama Putcha, Richard Casaburi, Alessandra Adami, Matthew Budoff, Hans Fischer, Janos Porszasz, Harry Rossiter, William Stringer, Michael E DeBakey, Amir Sharafkhaneh, Charlie Lan, Christine Wendt, Brian Bell, Marilyn G Foreman, Eugene Berkowitz, Gloria Westney, Russell Bowler, David A Lynch, Richard Rosiello, David Pace, Gerard Criner, David Ciccolella, Francis Cordova, Chandra Dass, Gilbert D'Alonzo, Parag Desai, Michael Jacobs, Steven Kelsen, Victor Kim, James Mamary, Nathaniel Marchetti, Aditi Satti, Kartik Shenoy, Alex Swift, Irene Swift, Maria Elena Vega-Sanchez, Mark Dransfield, William Bailey, Surya Bhatt, Anand Iyer, Hrudaya Nath, J Michael Wells, Joe Ramsdell, Paul Friedman, Xavier Soler, Andrew Yen, Alejandro P Comellas, Karin F Hoth, John Newell Jr, Brad Thompson, Mei Lan K Han, Ella Kazerooni, Carlos H Martinez, Joanne Billings, Abbie Begnaud, Tadashi Allen, Frank Sciurba, Jessica Bon, Divay Chandra, Carl Fuhrman, Joel Weissfeld, Antonio Anzueto, Sandra Adams, Diego Maselli-Caceres, Mario E Ruiz, Lystra P Hayden, Michael H Cho, Benjamin A Raby, Terri H Beaty, Edwin K Silverman, Craig P Hersh, COPDGene Investigators, James D Crapo, Edwin K Silverman, Barry J Make, Elizabeth A Regan, Terri Beaty, Ferdouse Begum, Peter J Castaldi, Michael Cho, Dawn L DeMeo, Adel R Boueiz, Marilyn G Foreman, Eitan Halper-Stromberg, Lystra P Hayden, Craig P Hersh, Jacqueline Hetmanski, Brian D Hobbs, John E Hokanson, Nan Laird, Christoph Lange, Sharon M Lutz, Merry-Lynn McDonald, Margaret M Parker, Dandi Qiao, Elizabeth A Regan, Edwin K Silverman, Emily S Wan, Sungho Won, Phuwanat Sakornsakolpat, Dmitry Prokopenko, Mustafa Al Qaisi, Harvey O Coxson, Teresa Gray, Mei Lan K Han, Eric A Hoffman, Stephen Humphries, Francine L Jacobson, Philip F Judy, Ella A Kazerooni, Alex Kluiber, David A Lynch, John D Newell Jr, Elizabeth A Regan, James C Ross, Raul San Jose Estepar, Joyce Schroeder, Jered Sieren, Douglas Stinson, Berend C Stoel, Juerg Tschirren, Edwin Van Beek, Bram van Ginneken, Eva van Rikxoort, George Washko, Carla G Wilson, Robert Jensen, Douglas Everett, Jim Crooks, Camille Moore, Matt Strand, Carla G Wilson, John E Hokanson, John Hughes, Gregory Kinney, Sharon M Lutz, Katherine Pratte, Kendra A Young, Surya Bhatt, Jessica Bon, Mei Lan K Han, Barry Make, Carlos Martinez, Susan Murray, Elizabeth Regan, Xavier Soler, Carla G Wilson, Russell P Bowler, Katerina Kechris, Farnoush Banaei-Kashani, Jeffrey L Curtis, Carlos H Martinez, Perry G Pernicano, Nicola Hanania, Philip Alapat, Mustafa Atik, Venkata Bandi, Aladin Boriek, Kalpatha Guntupalli, Elizabeth Guy, Arun Nachiappan, Amit Parulekar, Dawn L DeMeo, Craig Hersh, Francine L Jacobson, George Washko, Graham Barr, John Austin, Belinda D'Souza, Gregory D N Pearson, Anna Rozenshtein, Byron Thomashow, Neil MacIntyre Jr, Page McAdams, Lacey Washington, Charlene McEvoy, Joseph Tashjian, Robert Wise, Robert Brown, Nadia N Hansel, Karen Horton, Allison Lambert, Nirupama Putcha, Richard Casaburi, Alessandra Adami, Matthew Budoff, Hans Fischer, Janos Porszasz, Harry Rossiter, William Stringer, Michael E DeBakey, Amir Sharafkhaneh, Charlie Lan, Christine Wendt, Brian Bell, Marilyn G Foreman, Eugene Berkowitz, Gloria Westney, Russell Bowler, David A Lynch, Richard Rosiello, David Pace, Gerard Criner, David Ciccolella, Francis Cordova, Chandra Dass, Gilbert D'Alonzo, Parag Desai, Michael Jacobs, Steven Kelsen, Victor Kim, James Mamary, Nathaniel Marchetti, Aditi Satti, Kartik Shenoy, Alex Swift, Irene Swift, Maria Elena Vega-Sanchez, Mark Dransfield, William Bailey, Surya Bhatt, Anand Iyer, Hrudaya Nath, J Michael Wells, Joe Ramsdell, Paul Friedman, Xavier Soler, Andrew Yen, Alejandro P Comellas, Karin F Hoth, John Newell Jr, Brad Thompson, Mei Lan K Han, Ella Kazerooni, Carlos H Martinez, Joanne Billings, Abbie Begnaud, Tadashi Allen, Frank Sciurba, Jessica Bon, Divay Chandra, Carl Fuhrman, Joel Weissfeld, Antonio Anzueto, Sandra Adams, Diego Maselli-Caceres, Mario E Ruiz

Abstract

Background: Childhood asthma is strongly influenced by genetics and is a risk factor for reduced lung function and chronic obstructive pulmonary disease (COPD) in adults. This study investigates self-reported childhood asthma in adult smokers from the COPDGene Study. We hypothesize that childhood asthma is associated with decreased lung function, increased risk for COPD, and that a genome-wide association study (GWAS) will show association with established asthma variants.

Methods: We evaluated current and former smokers ages 45-80 of non-Hispanic white (NHW) or African American (AA) race. Childhood asthma was defined by self-report of asthma, diagnosed by a medical professional, with onset at < 16 years or during childhood. Subjects with a history of childhood asthma were compared to those who never had asthma based on lung function, development of COPD, and genetic variation. GWAS was performed in NHW and AA populations, and combined in meta-analysis. Two sets of established asthma SNPs from published literature were examined for association with childhood asthma.

Results: Among 10,199 adult smokers, 730 (7%) reported childhood asthma and 7493 (73%) reported no history of asthma. Childhood asthmatics had reduced lung function and increased risk for COPD (OR 3.42, 95% CI 2.81-4.18). Genotype data was assessed for 8031 subjects. Among NHWs, 391(7%) had childhood asthma, and GWAS identified one genome-wide significant association in KIAA1958 (rs59289606, p = 4.82 × 10- 8). Among AAs, 339 (12%) had childhood asthma. No SNPs reached genome-wide significance in the AAs or in the meta-analysis combining NHW and AA subjects; however, potential regions of interest were identified. Established asthma SNPs were examined, seven from the NHGRI-EBI database and five with genome-wide significance in the largest pediatric asthma GWAS. Associations were found in the current childhood asthma GWAS with known asthma loci in IL1RL1, IL13, LINC01149, near GSDMB, and in the C11orf30-LRRC32 region (Bonferroni adjusted p < 0.05 for all comparisons).

Conclusions: Childhood asthmatics are at increased risk for COPD. Defining asthma by self-report is valid in populations at risk for COPD, identifying subjects with clinical and genetic characteristics known to associate with childhood asthma. This has potential to improve clinical understanding of asthma-COPD overlap (ACO) and enhance future research into ACO-specific treatment regimens.

Trial registration: ClinicalTrials.gov, NCT00608764 (Active since January 28, 2008).

Keywords: Childhood asthma; Chronic obstructive pulmonary disease; Genetic epidemiology; Genome-wide association study; Lung function.

Conflict of interest statement

Ethics approval and consent to participate

This study was conducted in accordance with the amended Declaration of Helsinki. This study obtained approval from the Institutional Review Board at Brigham and Women’s Hospital and at each of the twenty-one clinical sites. All participants provided written informed consent for their medical data to be used prior to taking part in the study.

Clinical Center and IRB protocol numbers:

Ann Arbor VA, Ann Arbor, MI (PCC 2008–110732).

Baylor College of Medicine, Houston, TX (H-22209).

Brigham and Women’s Hospital, Boston, MA (2007-P-000554/2; BWH).

Columbia University, New York, NY (IRB-AAAC9324).

Duke University Medical Center, Durham, NC (Pro00004464).

Health Partners Research Foundation, Minneapolis, MN (07–127).

Johns Hopkins University, Baltimore, MD (NA_00011524).

Los Angeles Biomedical Research Institute at Harbor UCLA Medical Center, Los Angeles, CA (12756–01).

Michael E. DeBakey VAMC, Houston, TX (H-22202).

Minneapolis VA, Minneapolis, MN (4128-A).

Morehouse School of Medicine, Atlanta, GA (07–1029).

National Jewish Health, Denver, CO (HS-1883a).

Reliant Medical Group, Worcester, MA (1143).

Temple University, Philadelphia, PA (11369).

University of Alabama, Birmingham, AL (FO70712014).

University of California, San Diego, CA (70876).

University of Iowa, Iowa City, IA (200710717).

University of Michigan, Ann Arbor, MI (HUM00014973).

University of Minnesota, Minneapolis, MN (0801 M24949).

University of Pittsburgh, Pittsburgh, PA (PRO07120059).

University of Texas Health Science Center at San Antonio, San Antonio, TX (HSC20070644H).

Competing interests

C.P. Hersh reports personal fees from AstraZeneca, grants from Boehringer Ingelheim, personal fees from Mylan, personal fees from Concert Pharmaceuticals, all of which are outside the submitted work. In the past three years, E.K. Silverman received honoraria from Novartis for Continuing Medical Education Seminars and grant and travel support from GlaxoSmithKline unrelated to this manuscript. M.H. Cho has received grant support from GlaxoSmithKline. Authors L.P. Hayden, B.A. Raby, and T.H. Beaty have no conflicts of interest to disclose.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
LocusZoom Plot of childhood asthma GWAS variants a from non-Hispanic whites in KIAA1958 and b from the meta-analysis in the region near SCHIP1 and its read through transcript IQCJ-SCHIP1

References

    1. Asthma Fact Sheet. . Accessed Jan. 23, 2018.
    1. Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, et al. The NHGRI GWAS catalog, a curated resource of SNP-trait associations. Nucleic Acids Res. 2014;42:D1001–D1006. doi: 10.1093/nar/gkt1229.
    1. The NHGRI-EBI GWAS Catalog of published genome-wide association studies. . . Accessed Sept 28, 2017.
    1. Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature. 2007;448:470–473. doi: 10.1038/nature06014.
    1. Moffatt MF, Gut IG, Demenais F, Strachan DP, Bouzigon E, Heath S, et al. A large-scale, consortium-based genomewide association study of asthma. N Engl J Med. 2010;363:1211–1221. doi: 10.1056/NEJMoa0906312.
    1. Forno Erick, Lasky-Su Jessica, Himes Blanca, Howrylak Judie, Ramsey Clare, Brehm John, Klanderman Barbara, Ziniti John, Melén Erik, Pershagen Goran, Wickman Magnus, Martinez Fernando, Mauger Dave, Sorkness Christine, Tantisira Kelan, Raby Benjamin A., Weiss Scott T., Celedón Juan C. Genome-wide association study of the age of onset of childhood asthma. Journal of Allergy and Clinical Immunology. 2012;130(1):83-90.e4. doi: 10.1016/j.jaci.2012.03.020.
    1. Bonnelykke K, Sleiman P, Nielsen K, Kreiner-Moller E, Mercader JM, Belgrave D, et al. A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations. Nat Genet. 2014;46:51–55. doi: 10.1038/ng.2830.
    1. Ullemar V, Magnusson PK, Lundholm C, Zettergren A, Melen E, Lichtenstein P, et al. Heritability and confirmation of genetic association studies for childhood asthma in twins. Allergy. 2016;71:230–238. doi: 10.1111/all.12783.
    1. Koeppen-Schomerus G, Stevenson J, Plomin R. Genes and environment in asthma: a study of 4 year old twins. Arch Dis Child. 2001;85:398–400. doi: 10.1136/adc.85.5.398.
    1. van Beijsterveldt CE, Boomsma DI. Genetics of parentally reported asthma, eczema and rhinitis in 5-yr-old twins. Eur Respir J. 2007;29:516–521. doi: 10.1183/09031936.00065706.
    1. McGeachie MJ. Childhood asthma is a risk factor for the development of chronic obstructive pulmonary disease. Curr Opin Allergy Clin Immunol. 2017;17:104–109. doi: 10.1097/ACI.0000000000000348.
    1. McGeachie MJ, Yates KP, Zhou X, Guo F, Sternberg AL, Van Natta ML, et al. Patterns of growth and decline in lung function in persistent childhood asthma. N Engl J Med. 2016;374:1842–1852. doi: 10.1056/NEJMoa1513737.
    1. Lange P, Parner J, Vestbo J, Schnohr P, Jensen G. A 15-year follow-up study of ventilatory function in adults with asthma. N Engl J Med. 1998;339:1194–1200. doi: 10.1056/NEJM199810223391703.
    1. Svanes C, Sunyer J, Plana E, Dharmage S, Heinrich J, Jarvis D, et al. Early life origins of chronic obstructive pulmonary disease. Thorax. 2010;65:14–20. doi: 10.1136/thx.2008.112136.
    1. Woodruff PG, van den Berge M, Boucher RC, Brightling C, Burchard EG, Christenson SA, et al. American Thoracic Society/National Heart, Lung, and Blood Institute asthma-chronic obstructive pulmonary disease overlap workshop report. Am J Respir Crit Care Med. 2017;196:375–381. doi: 10.1164/rccm.201705-0973WS.
    1. Hayden LP, Hobbs BD, Cohen RT, Wise RA, Checkley W, Crapo JD, et al. Childhood pneumonia increases risk for chronic obstructive pulmonary disease: the COPDGene study. Respir Res. 2015;16:115. doi: 10.1186/s12931-015-0273-8.
    1. Hardin M, Silverman EK, Barr RG, Hansel NN, Schroeder JD, Make BJ, et al. The clinical features of the overlap between COPD and asthma. Respir Res. 2011;12:127. doi: 10.1186/1465-9921-12-127.
    1. Hardin M, Foreman M, Dransfield MT, Hansel N, Han MK, Cho MH, et al. Sex-specific features of emphysema among current and former smokers with COPD. Eur Respir J. 2016;47:104–112. doi: 10.1183/13993003.00996-2015.
    1. Diaz AA, Hardin ME, Come CE, San Jose Estepar R, Ross JC, Kurugol S, et al. Childhood-onset asthma in smokers. Association between CT measures of airway size, lung function, and chronic airflow obstruction. Ann Am Thorac Soc. 2014;11:1371–1378. doi: 10.1513/AnnalsATS.201403-095OC.
    1. Hayden LP, Hardin ME, Qiu W, Lynch DA, Strand MJ, van Beek EJ, et al. Asthma is a risk factor for respiratory exacerbations without increased rate of lung function decline: five-year follow-up in adult smokers from the COPDGene study. Chest. 2018;153:368–377. doi: 10.1016/j.chest.2017.11.038.
    1. Kesten S, Dzyngel B, Chapman KR, Zamel N, Tarlo S, Malo JL, et al. Defining the asthma phenotype for the purpose of genetic analysis. J Asthma. 1997;34:483–491. doi: 10.3109/02770909709055392.
    1. Kauppi P, Laitinen LA, Laitinen H, Kere J, Laitinen T. Verification of self-reported asthma and allergy in subjects and their family members volunteering for gene mapping studies. Respir Med. 1998;92:1281–1288. doi: 10.1016/S0954-6111(98)90229-3.
    1. Sin DD, Miravitlles M, Mannino DM, Soriano JB, Price D, Celli BR, et al. What is asthma-COPD overlap syndrome? Towards a consensus definition from a round table discussion. Eur Respir J. 2016;48:664–673. doi: 10.1183/13993003.00436-2016.
    1. Demenais F, Margaritte-Jeannin P, Barnes KC, Cookson WOC, Altmuller J, Ang W, et al. Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. Nat Genet. 2018;50:42–53. doi: 10.1038/s41588-017-0014-7.
    1. Regan EA, Hokanson JE, Murphy JR, Make B, Lynch DA, Beaty TH, et al. Genetic epidemiology of COPD (COPDGene) study design. COPD. 2010;7:32–43. doi: 10.3109/15412550903499522.
    1. COPDGene, Phase 1 Study Documents. . Accessed Mar. 13, 2015.
    1. Ferris BG. Epidemiology standardization project (American Thoracic Society) Am Rev Respir Dis. 1978;118:1–120.
    1. Cho MH, Boutaoui N, Klanderman BJ, Sylvia JS, Ziniti JP, Hersh CP, et al. Variants in FAM13A are associated with chronic obstructive pulmonary disease. Nat Genet. 2010;42:200–202. doi: 10.1038/ng.535.
    1. Cho MH, McDonald ML, Zhou X, Mattheisen M, Castaldi PJ, Hersh CP, et al. Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. Lancet Respir Med. 2014;2:214–225. doi: 10.1016/S2213-2600(14)70002-5.
    1. Genomes Project C, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491:56–65. doi: 10.1038/nature11632.
    1. Howie B, Fuchsberger C, Stephens M, Marchini J, Abecasis GR. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet. 2012;44:955–959. doi: 10.1038/ng.2354.
    1. Li Y, Byrnes AE, Li M. To identify associations with rare variants, just WHaIT: weighted haplotype and imputation-based tests. Am J Hum Genet. 2010;87:728–735. doi: 10.1016/j.ajhg.2010.10.014.
    1. Marenholz I, Esparza-Gordillo J, Ruschendorf F, Bauerfeind A, Strachan DP, Spycher BD, et al. Meta-analysis identifies seven susceptibility loci involved in the atopic march. Nat Commun. 2015;6:8804. doi: 10.1038/ncomms9804.
    1. Rabe KF, Hurd S, Anzueto A, Barnes PJ, Buist SA, Calverley P, et al. Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease: GOLD executive summary. Am J Respir Crit Care Med. 2007;176:532–555. doi: 10.1164/rccm.200703-456SO.
    1. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559–575. doi: 10.1086/519795.
    1. Hoggart CJ, Clark TG, De Iorio M, Whittaker JC, Balding DJ. Genome-wide significance for dense SNP and resequencing data. Genet Epidemiol. 2008;32:179–185. doi: 10.1002/gepi.20292.
    1. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science. 1996;273:1516–1517. doi: 10.1126/science.273.5281.1516.
    1. Yu K, Wang Z, Li Q, Wacholder S, Hunter DJ, Hoover RN, et al. Population substructure and control selection in genome-wide association studies. PLoS One. 2008;3:e2551. doi: 10.1371/journal.pone.0002551.
    1. Evangelou E, Ioannidis JP. Meta-analysis methods for genome-wide association studies and beyond. Nat Rev Genet. 2013;14:379–389. doi: 10.1038/nrg3472.
    1. Ferreira MA, Matheson MC, Duffy DL, Marks GB, Hui J, Le Souef P, et al. Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. Lancet. 2011;378:1006–1014. doi: 10.1016/S0140-6736(11)60874-X.
    1. Yan Q, Brehm J, Pino-Yanes M, Forno E, Lin J, Oh SS, et al. A meta-analysis of genome-wide association studies of asthma in Puerto Ricans. Eur Respir J. 2017;49.
    1. Barreto-Luis A, Pino-Yanes M, Corrales A, Campo P, Callero A, Acosta-Herrera M, et al. Genome-wide association study in Spanish identifies ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), as a novel asthma susceptibility gene. J Allergy Clin Immunol. 2016;137:964–966. doi: 10.1016/j.jaci.2015.09.051.
    1. Hirota T, Takahashi A, Kubo M, Tsunoda T, Tomita K, Doi S, et al. Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population. Nat Genet. 2011;43:893–896. doi: 10.1038/ng.887.
    1. Torgerson DG, Ampleford EJ, Chiu GY, Gauderman WJ, Gignoux CR, Graves PE, et al. Meta-analysis of genome-wide association studies of asthma in ethnically diverse north American populations. Nat Genet. 2011;43:887–892. doi: 10.1038/ng.888.
    1. Ferreira MA, Matheson MC, Tang CS, Granell R, Ang W, Hui J, et al. Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. J Allergy Clin Immunol. 2014;133:1564–1571. doi: 10.1016/j.jaci.2013.10.030.
    1. Pickrell JK, Berisa T, Liu JZ, Segurel L, Tung JY, Hinds DA. Detection and interpretation of shared genetic influences on 42 human traits. Nat Genet. 2016;48:709–717. doi: 10.1038/ng.3570.
    1. Almoguera B, Vazquez L, Mentch F, Connolly J, Pacheco JA, Sundaresan AS, et al. Identification of four novel loci in asthma in European American and African American populations. Am J Respir Crit Care Med. 2017;195:456–463. doi: 10.1164/rccm.201604-0861OC.
    1. Li X, Howard TD, Zheng SL, Haselkorn T, Peters SP, Meyers DA, et al. Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions. J Allergy Clin Immunol. 2010;125:328–335 e311. doi: 10.1016/j.jaci.2009.11.018.
    1. Weidinger S, Willis-Owen SA, Kamatani Y, Baurecht H, Morar N, Liang L, et al. A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. Hum Mol Genet. 2013;22:4841–4856. doi: 10.1093/hmg/ddt317.
    1. Galanter JM, Gignoux CR, Torgerson DG, Roth LA, Eng C, Oh SS, et al. Genome-wide association study and admixture mapping identify different asthma-associated loci in Latinos: the Genes-environments & Admixture in Latino Americans study. J Allergy Clin Immunol. 2014;134:295–305. doi: 10.1016/j.jaci.2013.08.055.
    1. Morris AP. Transethnic meta-analysis of genomewide association studies. Genet Epidemiol. 2011;35:809–822. doi: 10.1002/gepi.20630.
    1. Martinez FD. Early-life origins of chronic obstructive pulmonary disease. N Engl J Med. 2016;375:871–878. doi: 10.1056/NEJMra1603287.
    1. Hayden LP, Hardin ME, Qiu W, Lynch DA, Strand MJ, van Beek EJ, et al. Asthma is a risk factor for respiratory exacerbations without increased rate of lung function decline: five-year follow-up in adult smokers from the COPDGene study. Chest. 2017.
    1. Bujarski S, Parulekar AD, Sharafkhaneh A, Hanania NA. The asthma COPD overlap syndrome (ACOS) Curr Allergy Asthma Rep. 2015;15:509. doi: 10.1007/s11882-014-0509-6.
    1. Global Initiative for Asthma (GINA) Global Initiative for Chronic Obstructive Lung Disease (GOLD). Diagnosis of Diseases of Chronic Airflow Limitation: Asthma COPD and Asthma-COPD Overlap Syndrome (ACOS). 2015.
    1. Bonten TN, Kasteleyn MJ, de Mutsert R, Hiemstra PS, Rosendaal FR, Chavannes NH, et al. Defining asthma-COPD overlap syndrome: a population-based study. Eur Respir J. 2017:49.
    1. Global Initiative for Asthma (GINA). 2017 GINA Report, Global strategy for asthma management and prevention.
    1. Barrecheguren M, Roman-Rodriguez M, Miravitlles M. Is a previous diagnosis of asthma a reliable criterion for asthma-COPD overlap syndrome in a patient with COPD? Int J Chron Obstruct Pulmon Dis. 2015;10:1745–1752.
    1. Liu Z, Li P, Wang J, Fan Q, Yan P, Zhang X, et al. A meta-analysis of IL-13 polymorphisms and pediatric asthma risk. Med Sci Monit. 2014;20:2617–2623. doi: 10.12659/MSM.891017.
    1. Tamari M, Tanaka S, Hirota T. Genome-wide association studies of allergic diseases. Allergol Int. 2013;62:21–28. doi: 10.2332/allergolint.13-RAI-0539.
    1. Ramasamy A, Kuokkanen M, Vedantam S, Gajdos ZK, Couto Alves A, Lyon HN, et al. Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA. PLoS One. 2012;7:e44008. doi: 10.1371/journal.pone.0044008.
    1. Gudbjartsson DF, Bjornsdottir US, Halapi E, Helgadottir A, Sulem P, Jonsdottir GM, et al. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat Genet. 2009;41:342–347. doi: 10.1038/ng.323.
    1. Inoue H, Ito I, Niimi A, Matsumoto H, Oguma T, Tajiri T, et al. Association of interleukin 1 receptor-like 1 gene polymorphisms with eosinophilic phenotype in Japanese adults with asthma. Respir Investig. 2017;55:338–347. doi: 10.1016/j.resinv.2017.08.006.
    1. Gordon ED, Palandra J, Wesolowska-Andersen A, Ringel L, Rios CL, Lachowicz-Scroggins ME, et al. IL1RL1 asthma risk variants regulate airway type 2 inflammation. JCI Insight. 2016;1:e87871. doi: 10.1172/jci.insight.87871.
    1. Jenuth JP. The NCBI. Publicly available tools and resources on the web. Methods Mol Biol. 2000;132:301–312.
    1. Panganiban RA, Sun M, Dahlin A, Park HR, Kan M, Himes BE, et al. A functional splicing variant associated with decreased asthma risk abolishes the ability of gasdermin B (GSMDB) to induce epithelial cell pyroptosis. J Allergy Clin Immunol. 2018.
    1. Li X, Ampleford EJ, Howard TD, Moore WC, Li H, Busse WW, et al. The C11orf30-LRRC32 region is associated with total serum IgE levels in asthmatic patients. J Allergy Clin Immunol. 2012;129:575–578. doi: 10.1016/j.jaci.2011.09.040.
    1. Hwang SS, Jang SW, Lee KO, Kim HS, Lee GR. RHS6 coordinately regulates the Th2 cytokine genes by recruiting GATA3, SATB1, and IRF4. Allergy. 2017;72:772–782. doi: 10.1111/all.13078.
    1. Stein MM, Thompson EE, Schoettler N, Helling BA, Magnaye KM, Stanhope C, et al. A decade of research on the 17q12-21 asthma locus: piecing together the puzzle. J Allergy Clin Immunol. 2018.
    1. Kojima KK, Jurka J. Crypton transposons: identification of new diverse families and ancient domestication events. Mob DNA. 2011;2:12. doi: 10.1186/1759-8753-2-12.
    1. Kitagawa M, Takebe A, Ono Y, Imai T, Nakao K, Nishikawa S, et al. Phf14, a novel regulator of mesenchyme growth via platelet-derived growth factor (PDGF) receptor-alpha. J Biol Chem. 2012;287:27983–27996. doi: 10.1074/jbc.M112.350074.
    1. Huang Q, Zhang L, Wang Y, Zhang C, Zhou S, Yang G, et al. Depletion of PHF14, a novel histone-binding protein gene, causes neonatal lethality in mice due to respiratory failure. Acta Biochim Biophys Sin Shanghai. 2013;45:622–633. doi: 10.1093/abbs/gmt055.
    1. Jin J, Chou C, Lima M, Zhou D, Zhou X. Systemic sclerosis is a complex disease associated mainly with immune regulatory and inflammatory genes. Open Rheumatol J. 2014;8:29–42. doi: 10.2174/1874312901408010029.
    1. Toren K, Brisman J, Jarvholm B. Asthma and asthma-like symptoms in adults assessed by questionnaires. A literature review. Chest. 1993;104:600–608. doi: 10.1378/chest.104.2.600.
    1. Tisnado DM, Adams JL, Liu H, Damberg CL, Chen WP, Hu FA, et al. What is the concordance between the medical record and patient self-report as data sources for ambulatory care? Med Care. 2006;44:132–140. doi: 10.1097/.
    1. Mirabelli MC, Beavers SF, Flanders WD, Chatterjee AB. Reliability in reporting asthma history and age at asthma onset. J Asthma. 2014;51:956–963. doi: 10.3109/02770903.2014.930480.

Source: PubMed

Sponsors et collaborateurs

Les conditions médicales

Interventions en matière de drogue

3
S'abonner