{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T16:21:08Z","timestamp":1776702068157,"version":"3.51.2"},"reference-count":41,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2016,5,20]],"date-time":"2016-05-20T00:00:00Z","timestamp":1463702400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["PTDC\/IIM-GES\/5015\/2012"],"award-info":[{"award-number":["PTDC\/IIM-GES\/5015\/2012"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["CMUP-ERI\/TPE\/0028\/2013"],"award-info":[{"award-number":["CMUP-ERI\/TPE\/0028\/2013"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["SFRH\/BPD\/70008\/2010"],"award-info":[{"award-number":["SFRH\/BPD\/70008\/2010"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["SFRH\/BPD\/35737\/2007"],"award-info":[{"award-number":["SFRH\/BPD\/35737\/2007"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["Investigator-FCT contract"],"award-info":[{"award-number":["Investigator-FCT contract"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007081","name":"Fondation L\u2019Or\u00e9al","doi-asserted-by":"publisher","award":["FCT\/UNESCO\/L\u2019\u00d3real prize for Women in Science 2012"],"award-info":[{"award-number":["FCT\/UNESCO\/L\u2019\u00d3real prize for Women in Science 2012"]}],"id":[{"id":"10.13039\/501100007081","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Sociedade Portuguesa de Pneumologia","award":["SPP\/UCB Pharma fellowship"],"award-info":[{"award-number":["SPP\/UCB Pharma fellowship"]}]},{"name":"Sociedade Portuguesa de Pneumologia","award":["Pr\u00e9mio Robalo Cordeiro"],"award-info":[{"award-number":["Pr\u00e9mio Robalo Cordeiro"]}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0156103","type":"journal-article","created":{"date-parts":[[2016,5,21]],"date-time":"2016-05-21T23:20:02Z","timestamp":1463872802000},"page":"e0156103","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":9,"title":["Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax"],"prefix":"10.1371","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6983-8870","authenticated-orcid":false,"given":"In\u00eas","family":"Sousa","sequence":"first","affiliation":[]},{"given":"Patr\u00edcia","family":"Abrantes","sequence":"additional","affiliation":[]},{"given":"V\u00e2nia","family":"Francisco","sequence":"additional","affiliation":[]},{"given":"Gilberto","family":"Teixeira","sequence":"additional","affiliation":[]},{"given":"Marta","family":"Monteiro","sequence":"additional","affiliation":[]},{"given":"Jo\u00e3o","family":"Neves","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Norte","sequence":"additional","affiliation":[]},{"given":"Carlos","family":"Robalo Cordeiro","sequence":"additional","affiliation":[]},{"given":"Jo\u00e3o","family":"Moura e S\u00e1","sequence":"additional","affiliation":[]},{"given":"Ernestina","family":"Reis","sequence":"additional","affiliation":[]},{"given":"Patr\u00edcia","family":"Santos","sequence":"additional","affiliation":[]},{"given":"Manuela","family":"Oliveira","sequence":"additional","affiliation":[]},{"given":"Susana","family":"Sousa","sequence":"additional","affiliation":[]},{"given":"Marta","family":"Fradinho","sequence":"additional","affiliation":[]},{"given":"Filipa","family":"Malheiro","sequence":"additional","affiliation":[]},{"given":"Lu\u00eds","family":"Negr\u00e3o","sequence":"additional","affiliation":[]},{"given":"Salvato","family":"Feij\u00f3","sequence":"additional","affiliation":[]},{"given":"Sofia A.","family":"Oliveira","sequence":"additional","affiliation":[]}],"member":"340","published-online":{"date-parts":[[2016,5,20]]},"reference":[{"issue":"6","key":"ref1","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1378\/chest.92.6.1009","article-title":"Smoking and the increased risk of contracting spontaneous pneumothorax","volume":"92","author":"L Bense","year":"1987","journal-title":"Chest"},{"issue":"8","key":"ref2","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1136\/thorax.55.8.666","article-title":"Epidemiology of pneumothorax in England","volume":"55","author":"D Gupta","year":"2000","journal-title":"Thorax"},{"issue":"Suppl 2","key":"ref3","doi-asserted-by":"crossref","first-page":"ii39","DOI":"10.1136\/thx.58.suppl_2.ii39","article-title":"BTS guidelines for the management of spontaneous pneumothorax","volume":"58","author":"M Henry","year":"2003","journal-title":"Thorax"},{"issue":"10","key":"ref4","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1016\/j.hlc.2010.06.663","article-title":"Radiological predictors of recurrent primary spontaneous pneumothorax following non-surgical management","volume":"19","author":"R Ganesalingam","year":"2010","journal-title":"Hear Lung Circ"},{"issue":"9","key":"ref5","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1136\/thx.52.9.805","article-title":"Recurrence of primary spontaneous pneumothorax","volume":"52","author":"RT Sadikot","year":"1997","journal-title":"Thorax"},{"issue":"2","key":"ref6","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1002\/ajmg.1320400207","article-title":"On the inheritance of primary spontaneous pneumothorax","volume":"40","author":"IZ Abolnik","year":"1991","journal-title":"Am J Med Genet"},{"issue":"2","key":"ref7","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1136\/thx.53.2.151","article-title":"Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance","volume":"53","author":"PJ Morrison","year":"1998","journal-title":"Thorax"},{"issue":"3","key":"ref8","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1086\/428455","article-title":"A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax","volume":"76","author":"JN Painter","year":"2005","journal-title":"Am J Hum Genet"},{"issue":"1","key":"ref9","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1164\/rccm.200501-143OC","article-title":"Nonsense mutations in Folliculin presenting as isolated familial spontaneous pneumothorax in adults","volume":"172","author":"RB Graham","year":"2005","journal-title":"Am J Respir Crit Care Med"},{"issue":"9","key":"ref10","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1136\/jmg.2007.049874","article-title":"Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax","volume":"44","author":"Y Gunji","year":"2007","journal-title":"J Med Genet"},{"issue":"5","key":"ref11","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1183\/09031936.00132707","article-title":"Novel mutations in the folliculin gene associated with spontaneous pneumothorax","volume":"32","author":"BA Frohlich","year":"2008","journal-title":"Eur Respir J"},{"issue":"1","key":"ref12","doi-asserted-by":"crossref","first-page":"E1043","DOI":"10.1002\/humu.21130","article-title":"A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene","volume":"31","author":"DH Lim","year":"2010","journal-title":"Hum Mutat"},{"issue":"11","key":"ref13","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1038\/nrg930","article-title":"DNA Pooling: a tool for large-scale association studies","volume":"3","author":"P Sham","year":"2002","journal-title":"Nat Rev Genet"},{"issue":"4","key":"ref14","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.autrev.2005.07.005","article-title":"Genome-wide SNP association: identification of susceptibility alleles for osteoarthritis","volume":"5","author":"K Abel","year":"2006","journal-title":"Autoimmun Rev"},{"issue":"6","key":"ref15","doi-asserted-by":"crossref","first-page":"e35","DOI":"10.1093\/nar\/gkm1060","article-title":"Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arrays","volume":"36","author":"S Macgregor","year":"2008","journal-title":"Nucleic Acids Res"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/1471-2164-7-27","article-title":"Pooled DNA genotyping on Affymetrix SNP genotyping arrays","volume":"7","author":"G Kirov","year":"2006","journal-title":"BMC Genomics"},{"issue":"1","key":"ref17","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1086\/510686","article-title":"Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies","volume":"80","author":"JV Pearson","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"4","key":"ref18","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1086\/513320","article-title":"Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms","volume":"80","author":"S Melquist","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"1","key":"ref19","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/sj.gene.6364359","article-title":"Genomic DNA pooling for whole-genome association scans in complex disease: empirical demonstration of efficacy in rheumatoid arthritis","volume":"8","author":"S Steer","year":"2007","journal-title":"Genes Immun"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/1755-8794-1-44","article-title":"A genome-wide association study for late-onset Alzheimer\u2019s disease using DNA pooling","volume":"1","author":"R Abraham","year":"2008","journal-title":"BMC Med Genomics"},{"issue":"2","key":"ref21","doi-asserted-by":"crossref","first-page":"e1691","DOI":"10.1371\/journal.pone.0016912","article-title":"Pooled genome-wide analysis to identify novel risk loci for pediatric allergic asthma","volume":"6","author":"G Ricci","year":"2011","journal-title":"PLoS One"},{"issue":"4","key":"ref22","doi-asserted-by":"crossref","first-page":"e35307","DOI":"10.1371\/journal.pone.0035307","article-title":"Pooled sample-based gwas: A cost-effective alternative for identifying colorectal and prostate cancer risk variants in the polish population","volume":"7","author":"P Gaj","year":"2012","journal-title":"PLoS One"},{"issue":"4","key":"ref23","first-page":"273","article-title":"Pleural talcage in patients with spontaneous pneumothorax (author\u2019s transl)","volume":"37","author":"RG Vanderschueren","year":"1981","journal-title":"Poumon Coeur"},{"issue":"2","key":"ref24","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1183\/09031936.97.10020412","article-title":"Comparison of video-assisted thoracoscopic talcage for recurrent primary versus persistent secondary spontaneous pneumothorax","volume":"10","author":"M Noppen","year":"1997","journal-title":"Eur Respir J"},{"issue":"4","key":"ref25","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1136\/thx.52.4.329","article-title":"Treatment of complicated spontaneous pneumothorax by simple talc pleurodesis under thoracoscopy and local anaesthesia","volume":"52","author":"JM Tschopp","year":"1997","journal-title":"Thorax"},{"key":"ref26","article-title":"IL10 low-frequency variants in Beh\u00e7et\u2019s disease patients","author":"M Matos","year":"2014","journal-title":"Int J Rheum Dis"},{"issue":"2","key":"ref27","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1093\/bioinformatics\/btn587","article-title":"The SNPMaP package for R: a framework for genome-wide association using DNA pooling on microarrays","volume":"25","author":"OS Davis","year":"2009","journal-title":"Bioinformatics"},{"issue":"18","key":"ref28","doi-asserted-by":"crossref","first-page":"2397","DOI":"10.1093\/bioinformatics\/btg332","article-title":"Algorithms for large-scale genotyping microarrays","volume":"19","author":"WM Liu","year":"2003","journal-title":"Bioinformatics"},{"issue":"3","key":"ref29","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1136\/annrheumdis-2013-204475","article-title":"FUT2: filling the gap between genes and environment in Beh\u00e7et\u2019s disease?","volume":"74","author":"JM Xavier","year":"2015","journal-title":"Ann Rheum Dis"},{"issue":"2","key":"ref30","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1093\/bioinformatics\/bth457","article-title":"Haploview: analysis and visualization of LD and haplotype maps","volume":"21","author":"JC Barrett","year":"2005","journal-title":"Bioinformatics"},{"issue":"1","key":"ref31","doi-asserted-by":"crossref","first-page":"12","DOI":"10.11613\/BM.2014.003","article-title":"Understanding logistic regression analysis","volume":"24","author":"S Sperandei","year":"2014","journal-title":"Biochem Med"},{"issue":"3","key":"ref32","first-page":"181","article-title":"Onset of symptoms in spontaneous pneumothorax: correlation to physical activity","volume":"71","author":"L Bense","year":"1987","journal-title":"Eur J Respir Dis"},{"key":"ref33","first-page":"279","article-title":"Pneumothorax","volume":"22","author":"M Noppen","year":"2002","journal-title":"Pleural Dis\u2014Eur Respir Soc Monogr"},{"issue":"4","key":"ref34","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1038\/sj.ejhg.5201768","article-title":"Most pooling variation in array-based DNA pooling is attributable to array error rather than pool construction error","volume":"15","author":"S Macgregor","year":"2007","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"ref35","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1007\/s00439-010-0842-3","article-title":"Candidate genes for non-diabetic ESRD in African Americans: a genome-wide association study using pooled DNA","volume":"128","author":"MA Bostrom","year":"2010","journal-title":"Hum Genet"},{"issue":"3","key":"ref36","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/s00439-009-0626-9","article-title":"Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans","volume":"125","author":"Y Bosse","year":"2009","journal-title":"Hum Genet"},{"issue":"3","key":"ref37","first-page":"111","article-title":"Spontaneous pneumothorax: a 5-year experience","volume":"3","author":"C Sousa","year":"2011","journal-title":"J Clin Med Res"},{"issue":"4","key":"ref38","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1111\/j.1440-1843.2011.01968.x","article-title":"Pleural controversy: aetiology of pneumothorax","volume":"16","author":"D Haynes","year":"2011","journal-title":"Respirology"},{"issue":"4","key":"ref39","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1378\/chest.116.4.899","article-title":"Physical development of surgically treated patients with primary spontaneous pneumothorax","volume":"116","author":"S Fujino","year":"1999","journal-title":"Chest"},{"issue":"6","key":"ref40","first-page":"1379","article-title":"Incidence of spontaneous pneumothorax in Olmsted County, Minnesota: 1950 to 1974","volume":"120","author":"LJ Melton","year":"1979","journal-title":"Am Rev Respir Dis"},{"issue":"5","key":"ref41","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1016\/j.ajhg.2013.10.012","article-title":"Beyond GWASs: Illuminating the dark road from association to function","volume":"93","author":"SL Edwards","year":"2013","journal-title":"Am J Hum Genet"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0156103","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,9]],"date-time":"2020-05-09T08:11:04Z","timestamp":1589011864000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0156103"}},"subtitle":[],"editor":[{"given":"Dmitri","family":"Zaykin","sequence":"first","affiliation":[]}],"short-title":[],"issued":{"date-parts":[[2016,5,20]]},"references-count":41,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2016,5,20]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0156103","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,20]]}}}