{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T09:34:54Z","timestamp":1793093694495,"version":"4.5.0"},"reference-count":122,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,1,4]],"date-time":"2018-01-04T00:00:00Z","timestamp":1515024000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jacionline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2018,9]]},"DOI":"10.1016\/j.jaci.2017.12.974","type":"journal-article","created":{"date-parts":[[2018,1,4]],"date-time":"2018-01-04T13:19:19Z","timestamp":1515071959000},"page":"749-764.e3","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":172,"title":["A decade of research on the 17q12-21 asthma locus: Piecing together the puzzle"],"prefix":"10.1016","volume":"142","author":[{"given":"Michelle M.","family":"Stein","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma E.","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan","family":"Schoettler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3895-5107","authenticated-orcid":false,"given":"Britney A.","family":"Helling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin M.","family":"Magnaye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Stanhope","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Igartua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9anne","family":"Morin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"III","given":"Charles","family":"Washington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Nicolae","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"B\u00f8nnelykke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Ober","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2017.12.974_bib1","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1038\/nature06014","article-title":"Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma","volume":"448","author":"Moffatt","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2017.12.974_bib2","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/s41588-017-0014-7","article-title":"Multi-ancestry genome-wide association study identifies new asthma susceptibility loci that co-localize with immune cell enhancer histone marks","volume":"50","author":"Demenais","year":"2018","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib3","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1056\/NEJMoa0906312","article-title":"A large-scale, consortium-based genomewide association study of asthma","volume":"363","author":"Moffatt","year":"2010","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2017.12.974_bib4","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/j.ajhg.2014.03.004","article-title":"Joint analysis of functional genomic data and genome-wide association studies of 18 human traits","volume":"94","author":"Pickrell","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib5","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1038\/ng.888","article-title":"Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations","volume":"43","author":"Torgerson","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib6","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/ng.2830","article-title":"A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations","volume":"46","author":"B\u00f8nnelykke","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib7","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1038\/ejhg.2010.191","article-title":"Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia","volume":"19","author":"Ferreira","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib8","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.jaci.2013.08.055","article-title":"Genome-wide association study and admixture mapping identify different asthma-associated loci in Latinos: the Genes-environments & Admixture in Latino Americans study","volume":"134","author":"Galanter","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib9","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1136\/thoraxjnl-2011-201262","article-title":"Genome-wide association study to identify genetic determinants of severe asthma","volume":"67","author":"Wan","year":"2012","journal-title":"Thorax"},{"key":"10.1016\/j.jaci.2017.12.974_bib10","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.01505-2016","article-title":"A meta-analysis of genome-wide association studies of asthma in Puerto Ricans","volume":"49","author":"Yan","year":"2017","journal-title":"Eur Respir J"},{"key":"10.1016\/j.jaci.2017.12.974_bib11","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/j.jaci.2015.08.038","article-title":"Functional variants of 17q12-21 are associated with allergic asthma but not allergic rhinitis","volume":"137","author":"Andiappan","year":"2016","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib12","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1056\/NEJMoa1211592","article-title":"Rhinovirus wheezing illness and genetic risk of childhood-onset asthma","volume":"368","author":"\u00c7al\u0131\u015fkan","year":"2013","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2017.12.974_bib13","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1038\/ng2109","article-title":"A genome-wide association study of global gene expression","volume":"39","author":"Dixon","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib14","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1038\/ejhg.2010.38","article-title":"A sequence variant on 17q21 is associated with age at onset and severity of asthma","volume":"18","author":"Halapi","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib15","doi-asserted-by":"crossref","first-page":"e1003029","DOI":"10.1371\/journal.pgen.1003029","article-title":"Lung eQTLs to help reveal the molecular underpinnings of asthma","volume":"8","author":"Hao","year":"2012","journal-title":"PLoS Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib16","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1111\/all.12683","article-title":"eQTL of bronchial epithelial cells and bronchial alveolar lavage deciphers GWAS-identified asthma genes","volume":"70","author":"Li","year":"2015","journal-title":"Allergy"},{"key":"10.1016\/j.jaci.2017.12.974_bib17","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1111\/cea.12903","article-title":"Association of ORMDL3 with rhinovirus-induced endoplasmic reticulum stress and type I Interferon responses in human leucocytes","volume":"47","author":"Liu","year":"2017","journal-title":"Clin Exp Allergy"},{"key":"10.1016\/j.jaci.2017.12.974_bib18","doi-asserted-by":"crossref","first-page":"1587","DOI":"10.1016\/j.jaci.2011.03.015","article-title":"Asthma-associated polymorphisms in 17q21 influence cord blood ORMDL3 and GSDMA gene expression and IL-17 secretion","volume":"127","author":"Lluis","year":"2011","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib19","doi-asserted-by":"crossref","first-page":"4745","DOI":"10.1093\/hmg\/ddq392","article-title":"Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes","volume":"19","author":"Murphy","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib20","doi-asserted-by":"crossref","first-page":"e90151","DOI":"10.1172\/jci.insight.90151","article-title":"DNA methylation in lung cells is associated with asthma endotypes and genetic risk","volume":"1","author":"Nicodemus-Johnson","year":"2016","journal-title":"JCI Insight"},{"key":"10.1016\/j.jaci.2017.12.974_bib21","doi-asserted-by":"crossref","first-page":"13426","DOI":"10.1038\/ncomms13426","article-title":"17q21 asthma-risk variants switch CTCF binding and regulate IL-2 production by T cells","volume":"7","author":"Schmiedel","year":"2016","journal-title":"Nat Commun"},{"key":"10.1016\/j.jaci.2017.12.974_bib22","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1016\/j.jaci.2014.04.011","article-title":"A\u00a0genome-wide survey of CD4(+) lymphocyte regulatory genetic variants identifies novel asthma genes","volume":"134","author":"Sharma","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib23","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.ajhg.2009.08.007","article-title":"Allele-specific chromatin remodeling in the ZPBP2\/GSDMB\/ORMDL3 locus associated with the risk of asthma and autoimmune disease","volume":"85","author":"Verlaan","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib24","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/j.anai.2012.03.002","article-title":"17q12-21 variants are\u00a0associated with asthma and interact with active smoking in an adult population from the United Kingdom","volume":"108","author":"Marinho","year":"2012","journal-title":"Ann Allergy Asthma Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib25","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1186\/1471-2350-12-170","article-title":"Genome-wide association study identifies PERLD1 as asthma candidate gene","volume":"12","author":"Anantharaman","year":"2011","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib26","doi-asserted-by":"crossref","first-page":"5965","DOI":"10.1038\/ncomms6965","article-title":"Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma","volume":"6","author":"Igartua","year":"2015","journal-title":"Nat Commun"},{"key":"10.1016\/j.jaci.2017.12.974_bib27","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1111\/all.12537","article-title":"17q21 gene variation is not associated with asthma in adulthood","volume":"70","author":"Kreiner-Moller","year":"2015","journal-title":"Allergy"},{"key":"10.1016\/j.jaci.2017.12.974_bib28","doi-asserted-by":"crossref","first-page":"1985","DOI":"10.1056\/NEJMoa0806604","article-title":"Effect of 17q21 variants and smoking exposure in early-onset asthma","volume":"359","author":"Bouzigon","year":"2008","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2017.12.974_bib29","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.anai.2013.01.021","article-title":"17q12-21 and asthma: interactions with early-life environmental exposures","volume":"110","author":"Blekic","year":"2013","journal-title":"Ann Allergy Asthma Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib30","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1126\/science.1262110","article-title":"Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans","volume":"348","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.jaci.2017.12.974_bib31","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1186\/1471-2164-14-627","article-title":"The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts","volume":"14","author":"Morrison","year":"2013","journal-title":"BMC Genomics"},{"key":"10.1016\/j.jaci.2017.12.974_bib32","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1016\/j.jaci.2015.03.014","article-title":"Polymorphisms related to ORMDL3 are associated with asthma susceptibility, alterations in transcriptional regulation of ORMDL3, and changes in TH2 cytokine levels","volume":"136","author":"Schedel","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib33","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1164\/rccm.201507-1493OC","article-title":"The early development of wheeze. Environmental determinants and genetic susceptibility at 17q21","volume":"193","author":"Loss","year":"2016","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jaci.2017.12.974_bib34","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1093\/hmg\/ddu479","article-title":"Risk of childhood asthma is associated with CpG-site polymorphisms, regional DNA methylation and mRNA levels at the GSDMB\/ORMDL3 locus","volume":"24","author":"Acevedo","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib35","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1164\/rccm.200711-1644OC","article-title":"ORMDL3 gene is associated with asthma in three ethnically diverse populations","volume":"177","author":"Galanter","year":"2008","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jaci.2017.12.974_bib36","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/bs.ai.2017.06.001","article-title":"Chromosome 17q21 Genes ORMDL3 and GSDMB in asthma and immune diseases","volume":"135","author":"Das","year":"2017","journal-title":"Adv Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib37","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/j.jaci.2016.01.006","article-title":"Leveraging gene-environment interactions and endotypes for asthma gene discovery","volume":"137","author":"B\u00f8nnelykke","year":"2016","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib38","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1164\/rccm.200809-1436OC","article-title":"Chromosome 17q21 gene variants are associated with asthma and exacerbations but not atopy in early childhood","volume":"179","author":"Bisgaard","year":"2009","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jaci.2017.12.974_bib39","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1183\/09031936.00154509","article-title":"17q21 variants modify the association between early respiratory infections and asthma","volume":"36","author":"Smit","year":"2010","journal-title":"Eur Respir J"},{"key":"10.1016\/j.jaci.2017.12.974_bib40","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1038\/ng.2694","article-title":"Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization","volume":"45","author":"B\u00f8nnelykke","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib41","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1111\/j.1398-9995.2012.02819.x","article-title":"Interaction of a 17q12 variant with both fetal and infant smoke exposure in the development of childhood asthma-like symptoms","volume":"67","author":"van der Valk","year":"2012","journal-title":"Allergy"},{"key":"10.1016\/j.jaci.2017.12.974_bib42","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/gene.2011.51","article-title":"Effects of a 17q21 chromosome gene variant, tobacco smoke and furred pets on infant wheeze","volume":"13","author":"Brauner","year":"2012","journal-title":"Genes Immun"},{"key":"10.1016\/j.jaci.2017.12.974_bib43","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/j.jaci.2013.08.049","article-title":"Novel childhood asthma genes interact with in utero and early-life tobacco smoke exposure","volume":"133","author":"Scholtens","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib44","article-title":"Cat exposure in early life decreases asthma risk from the 17q21 high-risk variant","author":"Stokholm","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib45","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.jaci.2012.09.021","article-title":"Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes","volume":"131","author":"Granell","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib46","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1038\/ng.1017","article-title":"Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis","volume":"44","author":"Paternoster","year":"2012","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib47","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1016\/j.jaci.2015.03.030","article-title":"Genome-wide association study of recalcitrant atopic dermatitis in Korean children","volume":"136","author":"Kim","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib48","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1016\/j.jaci.2012.10.002","article-title":"A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations","volume":"131","author":"Levin","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib49","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1016\/j.jaci.2011.09.029","article-title":"A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study","volume":"129","author":"Granada","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib50","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1016\/j.jaci.2014.10.033","article-title":"Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos","volume":"135","author":"Pino-Yanes","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib51","doi-asserted-by":"crossref","first-page":"e1000166","DOI":"10.1371\/journal.pgen.1000166","article-title":"Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus","volume":"4","author":"Weidinger","year":"2008","journal-title":"PLoS Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib52","doi-asserted-by":"crossref","first-page":"e80941","DOI":"10.1371\/journal.pone.0080941","article-title":"Genome-wide association study for levels of total serum IgE identifies HLA-C in a Japanese population","volume":"8","author":"Yatagai","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.jaci.2017.12.974_bib53","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.jaci.2007.09.038","article-title":"Genetic polymorphism regulating ORM1-like 3 (Saccharomyces cerevisiae) expression is associated with childhood atopic asthma in a Japanese population","volume":"121","author":"Hirota","year":"2008","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib54","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/j.jaci.2014.08.016","article-title":"Associations between the 17q21 region and allergic rhinitis in 5 birth cohorts","volume":"135","author":"Fuertes","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib55","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1111\/all.12066","article-title":"Variants in the 17q21 asthma susceptibility locus are associated with allergic rhinitis in the Japanese population","volume":"68","author":"Tomita","year":"2013","journal-title":"Allergy"},{"key":"10.1016\/j.jaci.2017.12.974_bib56","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1016\/j.jaci.2011.08.030","article-title":"A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order","volume":"128","author":"Ramasamy","year":"2011","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib57","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1164\/ajrccm.165.6.2102057","article-title":"Genetic loci influencing lung function: a genome-wide scan in the Framingham Study","volume":"165","author":"Joost","year":"2002","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jaci.2017.12.974_bib58","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1038\/ng.501","article-title":"Genome-wide association study identifies five loci associated with lung function","volume":"42","author":"Repapi","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib59","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1038\/ng.941","article-title":"Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function","volume":"43","author":"Soler Artigas","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib60","doi-asserted-by":"crossref","first-page":"e100776","DOI":"10.1371\/journal.pone.0100776","article-title":"Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function","volume":"9","author":"Tang","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.jaci.2017.12.974_bib61","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.jaci.2013.06.018","article-title":"Genome-wide association study of lung function phenotypes in a founder population","volume":"133","author":"Yao","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib62","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.jaci.2013.08.053","article-title":"Fraction of exhaled nitric oxide values in childhood are associated with\u00a017q11.2-q12 and 17q12-q21 variants","volume":"134","author":"van der Valk","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib63","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1111\/cea.12461","article-title":"A\u00a0common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults","volume":"45","author":"Bouzigon","year":"2015","journal-title":"Clin Exp Allergy"},{"key":"10.1016\/j.jaci.2017.12.974_bib64","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/ng.323","article-title":"Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction","volume":"41","author":"Gudbjartsson","year":"2009","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib65","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng.175","article-title":"Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease","volume":"40","author":"Barrett","year":"2008","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib66","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/ng.764","article-title":"Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47","volume":"43","author":"Anderson","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib67","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1053\/j.gastro.2015.07.065","article-title":"Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans","volume":"149","author":"Huang","year":"2015","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jaci.2017.12.974_bib68","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1002\/dmrr.1259","article-title":"Genetic association analyses of atopic illness and proinflammatory cytokine genes with type 1 diabetes","volume":"27","author":"Saleh","year":"2011","journal-title":"Diabetes Metab Res Rev"},{"key":"10.1016\/j.jaci.2017.12.974_bib69","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1038\/ng.381","article-title":"Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes","volume":"41","author":"Barrett","year":"2009","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib70","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1038\/ng.582","article-title":"Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci","volume":"42","author":"Stahl","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib71","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1038\/ng.789","article-title":"Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis","volume":"43","author":"Mells","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib72","doi-asserted-by":"crossref","first-page":"2544","DOI":"10.1056\/NEJMoa0810440","article-title":"Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants","volume":"360","author":"Hirschfield","year":"2009","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2017.12.974_bib73","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/j.jaci.2016.10.055","article-title":"Shared genetic variants suggest common pathways in allergy and autoimmune diseases","volume":"140","author":"Kreiner","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib74","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.jaci.2012.04.041","article-title":"Genome-wide association studies of asthma indicate opposite immunopathogenesis direction from autoimmune diseases","volume":"130","author":"Li","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib75","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1016\/j.jaci.2008.06.041","article-title":"ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry","volume":"122","author":"Sleiman","year":"2008","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib76","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/s00251-016-0914-1","article-title":"Novel genetic risk factors for asthma in African American children: precision medicine and the SAGE II study","volume":"68","author":"White","year":"2016","journal-title":"Immunogenetics"},{"key":"10.1016\/j.jaci.2017.12.974_bib77","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1164\/rccm.201604-0861OC","article-title":"Identification of four novel loci in asthma in European American and African American populations","volume":"195","author":"Almoguera","year":"2017","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jaci.2017.12.974_bib78","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1111\/pai.12505","article-title":"Genetic effects of multiple asthma loci identified by genomewide association studies on asthma and spirometric indices","volume":"27","author":"Tang","year":"2016","journal-title":"Pediatr Allergy Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib79","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1186\/1471-2350-12-133","article-title":"Association of genetic variants in chromosome 17q21 and adult-onset asthma in a Chinese Han population","volume":"12","author":"Fang","year":"2011","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib80","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1111\/tan.12342","article-title":"Genetic variants of 17q21 are associated with childhood-onset asthma and related phenotypes in a northeastern Han Chinese population: a case-control study","volume":"83","author":"Yu","year":"2014","journal-title":"Tissue Antigens"},{"key":"10.1016\/j.jaci.2017.12.974_bib81","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1111\/tan.12688","article-title":"Polymorphisms of RAD50, IL33 and IL1RL1 are associated with atopic asthma in Chinese population","volume":"86","author":"Chen","year":"2015","journal-title":"Tissue Antigens"},{"key":"10.1016\/j.jaci.2017.12.974_bib82","doi-asserted-by":"crossref","first-page":"340","DOI":"10.4238\/2012.February.10.5","article-title":"Genetic variants on 17q21 are associated with asthma in a Han Chinese population","volume":"11","author":"Li","year":"2012","journal-title":"Genet Mol Res"},{"key":"10.1016\/j.jaci.2017.12.974_bib83","doi-asserted-by":"crossref","first-page":"4646","DOI":"10.4238\/2012.October.19.1","article-title":"Single nucleotide polymorphisms in the ORM1-like 3 gene associated with childhood asthma in a Chinese population","volume":"11","author":"Yang","year":"2012","journal-title":"Genet Mol Res"},{"key":"10.1016\/j.jaci.2017.12.974_bib84","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1016\/j.humimm.2012.06.009","article-title":"GSDMB\/ORMDL3 variants contribute to asthma susceptibility and eosinophil-mediated bronchial hyperresponsiveness","volume":"73","author":"Kang","year":"2012","journal-title":"Hum Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib85","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1002\/ppul.21424","article-title":"Polymorphisms in GSDMA and GSDMB are associated with asthma susceptibility, atopy and BHR","volume":"46","author":"Yu","year":"2011","journal-title":"Pediatr Pulmonol"},{"key":"10.1016\/j.jaci.2017.12.974_bib86","doi-asserted-by":"crossref","first-page":"e1002170","DOI":"10.1371\/journal.pgen.1002170","article-title":"Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations","volume":"7","author":"Noguchi","year":"2011","journal-title":"PLoS Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib87","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1016\/j.jaci.2017.12.974_bib88","doi-asserted-by":"crossref","first-page":"12522","DOI":"10.1038\/ncomms12522","article-title":"A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome","volume":"7","author":"Mathias","year":"2016","journal-title":"Nat Commun"},{"key":"10.1016\/j.jaci.2017.12.974_bib89","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1093\/infdis\/jis504","article-title":"Comparison of the etiology of viral respiratory illnesses in inner-city and suburban infants","volume":"206","author":"Gern","year":"2012","journal-title":"J Infect Dis"},{"key":"10.1016\/j.jaci.2017.12.974_bib90","doi-asserted-by":"crossref","first-page":"e1005111","DOI":"10.1371\/journal.pgen.1005111","article-title":"Host genetic variation influences gene expression response to rhinovirus infection","volume":"11","author":"\u00c7al\u0131\u015fkan","year":"2015","journal-title":"PLoS Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib91","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.biocel.2017.03.007","article-title":"Mechanisms and roles by which IRF-3 mediates the regulation of ORMDL3 transcription in respiratory syncytial virus infection","volume":"87","author":"Wang","year":"2017","journal-title":"Int J Biochem Cell Biol"},{"key":"10.1016\/j.jaci.2017.12.974_bib92","doi-asserted-by":"crossref","first-page":"1712","DOI":"10.1111\/all.12990","article-title":"Combining genomewide association study and lung eQTL analysis provides evidence for novel genes associated with asthma","volume":"71","author":"Nieuwenhuis","year":"2016","journal-title":"Allergy"},{"key":"10.1016\/j.jaci.2017.12.974_bib93","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1038\/nature12531","article-title":"Transcriptome and genome sequencing uncovers functional variation in humans","volume":"501","author":"Lappalainen","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2017.12.974_bib94","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1164\/rccm.200903-0392OC","article-title":"T-helper type 2-driven inflammation defines major subphenotypes of asthma","volume":"180","author":"Woodruff","year":"2009","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jaci.2017.12.974_bib95","article-title":"Interferon-stimulated gene expression, type-2 inflammation and endoplasmic reticulum stress in asthma","author":"Bhakta","year":"2017","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jaci.2017.12.974_bib96","doi-asserted-by":"crossref","first-page":"13132","DOI":"10.1073\/pnas.1610433113","article-title":"GSDMB induces an asthma phenotype characterized by increased airway responsiveness and remodeling without lung inflammation","volume":"113","author":"Das","year":"2016","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2017.12.974_bib97","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1038\/nature10442","article-title":"CTCF-promoted RNA polymerase II pausing links DNA methylation to splicing","volume":"479","author":"Shukla","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2017.12.974_bib98","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2017.12.974_bib99","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1007\/s00439-012-1142-x","article-title":"Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines","volume":"131","author":"Berlivet","year":"2012","journal-title":"Hum Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib100","unstructured":"NCBI Gene Report on PGAP3. Available at: https:\/\/www.ncbi.nlm.nih.gov\/gene\/93210. Accessed September 10, 2017."},{"key":"10.1016\/j.jaci.2017.12.974_bib101","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1038\/nature08787","article-title":"Orm family proteins mediate sphingolipid homeostasis","volume":"463","author":"Breslow","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2017.12.974_bib102","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1016\/j.jaci.2016.08.053","article-title":"Oroscomucoid like protein 3 (ORMDL3) transgenic mice have reduced levels of sphingolipids including sphingosine-1-phosphate and ceramide","volume":"139","author":"Miller","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib103","doi-asserted-by":"crossref","first-page":"3017","DOI":"10.4049\/jimmunol.1601848","article-title":"Cutting edge: targeting epithelial ORMDL3 increases, rather than reduces, airway responsiveness and is associated with increased sphingosine-1-phosphate","volume":"198","author":"Miller","year":"2017","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib104","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1016\/j.jaci.2015.02.031","article-title":"Aberrant ORM (yeast)-like protein isoform 3 (ORMDL3) expression dysregulates ceramide homeostasis in cells and ceramide exacerbates allergic asthma in mice","volume":"136","author":"Oyeniran","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib105","doi-asserted-by":"crossref","first-page":"2969","DOI":"10.3892\/mmr.2017.6413","article-title":"ORMDL3 is associated with airway remodeling in asthma via the ERK\/MMP-9 pathway","volume":"15","author":"Yu","year":"2017","journal-title":"Mol Med Rep"},{"key":"10.1016\/j.jaci.2017.12.974_bib106","doi-asserted-by":"crossref","first-page":"4289","DOI":"10.1096\/fj.201600639R","article-title":"ORMDL3 expression levels have no influence on the activity of serine palmitoyltransferase","volume":"30","author":"Zhakupova","year":"2016","journal-title":"FASEB J"},{"key":"10.1016\/j.jaci.2017.12.974_bib107","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1093\/hmg\/ddp471","article-title":"The\u00a0asthma-associated ORMDL3 gene product regulates endoplasmic reticulum-mediated calcium signaling and cellular stress","volume":"19","author":"Cantero-Recasens","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bib108","doi-asserted-by":"crossref","first-page":"e2699","DOI":"10.1038\/cddis.2017.76","article-title":"Upregulation of miR-665 promotes apoptosis and colitis in inflammatory bowel disease by repressing the endoplasmic reticulum stress components XBP1 and ORMDL3","volume":"8","author":"Li","year":"2017","journal-title":"Cell Death Dis"},{"key":"10.1016\/j.jaci.2017.12.974_bib109","doi-asserted-by":"crossref","first-page":"3475","DOI":"10.4049\/jimmunol.1303047","article-title":"ORMDL3 transgenic mice have increased airway remodeling and airway responsiveness characteristic of asthma","volume":"192","author":"Miller","year":"2014","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bib110","doi-asserted-by":"crossref","first-page":"16648","DOI":"10.1073\/pnas.1204151109","article-title":"ORMDL3 is an inducible lung epithelial gene regulating metalloproteases, chemokines, OAS, and ATF6","volume":"109","author":"Miller","year":"2012","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2017.12.974_bib111","doi-asserted-by":"crossref","first-page":"2479","DOI":"10.1038\/ncomms3479","article-title":"ORMDL3 promotes eosinophil trafficking and activation via regulation of integrins and CD48","volume":"4","author":"Ha","year":"2013","journal-title":"Nat Commun"},{"key":"10.1016\/j.jaci.2017.12.974_bib112","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1016\/j.jaci.2016.07.033","article-title":"Pulmonary ORMDL3 is critical for induction of Alternaria-induced allergic airways disease","volume":"139","author":"Loser","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bibE1","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jaci.2017.12.974_bibE2","doi-asserted-by":"crossref","first-page":"R29","DOI":"10.1186\/gb-2014-15-2-r29","article-title":"voom: Precision weights unlock linear model analysis tools for RNA-seq read counts","volume":"15","author":"Law","year":"2014","journal-title":"Genome Biol"},{"key":"10.1016\/j.jaci.2017.12.974_bibE3","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1093\/nar\/gkv007","article-title":"limma powers differential expression analyses for RNA-sequencing and microarray studies","volume":"43","author":"Ritchie","year":"2015","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jaci.2017.12.974_bibE4","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2016.00516","article-title":"Skewed lung CCR4 to CCR6 CD4+ T cell ratio in idiopathic pulmonary fibrosis is associated with pulmonary function","volume":"7","author":"Adegunsoye","year":"2016","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2017.12.974_bibE5","doi-asserted-by":"crossref","first-page":"R36","DOI":"10.1186\/gb-2013-14-4-r36","article-title":"TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions","volume":"14","author":"Kim","year":"2013","journal-title":"Genome Biol"},{"key":"10.1016\/j.jaci.2017.12.974_bibE6","first-page":"155","article-title":"Isolation and culture of human airway smooth muscle cells","volume":"56","author":"Panettieri","year":"2001","journal-title":"Methods Mol Med"},{"key":"10.1016\/j.jaci.2017.12.974_bibE7","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1093\/bioinformatics\/btn224","article-title":"lumi: a pipeline for processing Illumina microarray","volume":"24","author":"Du","year":"2008","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jaci.2017.12.974_bibE8","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1164\/rccm.201506-1243OC","article-title":"Genome-wide methylation study identifies an IL-13-induced epigenetic signature in asthmatic airways","volume":"193","author":"Nicodemus-Johnson","year":"2016","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jaci.2017.12.974_bibE9","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1038\/nrg2825","article-title":"Tackling the widespread and critical impact of batch effects in high-throughput data","volume":"11","author":"Leek","year":"2010","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.jaci.2017.12.974_bibE10","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1093\/biostatistics\/kxj037","article-title":"Adjusting batch effects in microarray expression data using empirical Bayes methods","volume":"8","author":"Johnson","year":"2007","journal-title":"Biostatistics"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674917329433?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674917329433?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T09:13:10Z","timestamp":1758791590000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674917329433"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9]]},"references-count":122,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,9]]}},"alternative-id":["S0091674917329433"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2017.12.974","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2018,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A decade of research on the 17q12-21 asthma locus: Piecing together the puzzle","name":"articletitle","label":"Article Title"},{"value":"Journal of Allergy and Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaci.2017.12.974","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 The Authors. Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology.","name":"copyright","label":"Copyright"}]}}