{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T05:14:39Z","timestamp":1780377279372,"version":"3.54.1"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T00:00:00Z","timestamp":1683158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T00:00:00Z","timestamp":1683158400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pulm Med"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic disorder associated mainly with pulmonary emphysema and Chronic Obstructive Pulmonary Disease (COPD). All individuals with COPD regardless of age or ethnicity should be tested for AATD, but in Colombia its prevalence in unknown.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Main objective<\/jats:title>\n                <jats:p>To determine the prevalence of the genetic mutations, present in AATD in adult patients with COPD in Colombia, using a genotyping test on cells from the oral mucosa.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>This was a multicentre, observational, cross-sectional study which included adult patients attending seven COPD care centres in Colombia. Demographic data, medical history, including history of exposure to smoking and biomass smoke, most recent spirometry, pharmacological and non-pharmacological treatment received, serum AAT levels, and mutations detected by the genotyping test were recorded for all the recruited patients. For the comparison of variables between the groups with and without mutation, we used the X<jats:sup>2<\/jats:sup> test for the qualitative variables and the Student\u2019s t-test or Mann-Whitney U test according to their distribution.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Main findings<\/jats:title>\n                <jats:p>We collected a sample of 1,107 patients, the median age was 73.8 years (87.6\u201379.9). Mutations were documented in 144 patients (13.01%), the majority had the M\/S mutation (78.50%), followed by M\/Z (9.72%). One patient had a ZZ mutation and two patients had null alleles. In total, 23 patients had mutations associated with serum AAT deficiency (levels below 60\u00a0mg\/dl).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Genetic mutations were documented in 13.01% of patients with COPD in Colombia and 2.07% were AATD-related, showing that there is a significant number of underdiagnosed patients.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12890-023-02453-0","type":"journal-article","created":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T11:03:17Z","timestamp":1683198197000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Prevalence of genetic mutations in alpha-1 antitrypsin deficiency (aatd) in patients with chronic obstructive pulmonary disease in Colombia"],"prefix":"10.1186","volume":"23","author":[{"given":"Abraham","family":"Al\u00ed-Munive","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prada","family":"Leidy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia Juliana","family":"Proa\u00f1os","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Pedrozo-Pupo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Giraldo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Cano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Diaz-Bossa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Mosquera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hector","family":"Paul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauricio","family":"Gonzalez-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Aguirre-Franco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Luis","family":"L\u00f3pez-Campos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Casas-Herrera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,5,4]]},"reference":[{"issue":"155","key":"2453_CR1","doi-asserted-by":"publisher","first-page":"190073","DOI":"10.1183\/16000617.0073-2019","volume":"29","author":"M Cazzola","year":"2020","unstructured":"Cazzola M, Stolz D, Rogliani P, Matera MG: \u03b1(1)-Antitrypsin deficiency and chronic respiratory disorders. Eur Respir Rev 2020, 29(155):190073.","journal-title":"Eur Respir Rev"},{"issue":"1","key":"2453_CR2","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1111\/j.1440-1843.2005.00692.x","volume":"10","author":"CRG Asia Pacific","year":"2005","unstructured":"Asia Pacific CRG: Global Initiative for Chronic Obstructive Lung Disease strategy for the diagnosis, management and prevention of chronic obstructive pulmonary disease: an Asia-Pacific perspective. Respirology 2005, 10(1):9\u201317.","journal-title":"Respirology"},{"issue":"5","key":"2453_CR3","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1177\/1753465812457113","volume":"6","author":"FJ de Serres","year":"2012","unstructured":"de Serres FJ, Blanco I: Prevalence of \u03b11-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review. Therapeutic Advances in Respiratory Disease 2012, 6(5):277\u2013295.","journal-title":"Therapeutic Advances in Respiratory Disease"},{"issue":"3","key":"2453_CR4","first-page":"96","volume":"71","author":"FJ De Serres","year":"2009","unstructured":"De Serres FJ, Blanco I, Fern\u00e1ndez-Bustillo E: Estimates of PI*S and PI*Z Alpha-1 antitrypsin deficiency alleles prevalence in the Caribbean and North, Central and South America. Monaldi Arch Chest Dis. 2009; 71(3): 96\u2013105.","journal-title":"Monaldi Arch Chest Dis"},{"key":"2453_CR5","doi-asserted-by":"publisher","first-page":"2617","DOI":"10.2147\/COPD.S327803","volume":"16","author":"C Martinez-Gonz\u00e1lez","year":"2021","unstructured":"Martinez-Gonz\u00e1lez C, Blanco I, Diego I, Bueno P, Miravitlles M: Estimated prevalence and number of PiMZ genotypes of Alpha-1 antitrypsin in seventy-four Countries Worldwide. Int J Chron Obstruct Pulmon Dis 2021, 16:2617\u20132630.","journal-title":"Int J Chron Obstruct Pulmon Dis"},{"issue":"9","key":"2453_CR6","first-page":"571","volume":"56","author":"G Menga","year":"2020","unstructured":"Menga G, Acquier MF, Echazarreta AL, Sorroche PB, Lorenzon MV, Fern\u00e1ndez ME, Saez MS: Prevalence of Alpha-1 antitrypsin deficiency in COPD patients in Argentina. The DAAT.AR study. Archivos de Bronconeumolog\u00eda (English Edition) 2020, 56(9):571\u2013577.","journal-title":"English Edition)"},{"issue":"15","key":"2453_CR7","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.1056\/NEJMra1910234","volume":"382","author":"P Strnad","year":"2020","unstructured":"Strnad P, McElvaney NG, Lomas DA: Alpha1-Antitrypsin Deficiency. New England Journal of Medicine 2020, 382(15):1443\u20131455.","journal-title":"New England Journal of Medicine"},{"key":"2453_CR8","doi-asserted-by":"crossref","unstructured":"Strnad P, Brantly M, Bals R: \u03b11-Antitrypsin Deficiency. In.: European Respiratory Society; 2019: ix-xi.","DOI":"10.1183\/2312508X.erm8519"},{"issue":"3","key":"2453_CR9","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1378\/chest.89.3.370","volume":"89","author":"J Lieberman","year":"1986","unstructured":"Lieberman J, Winter B, Sastre A: Alpha1-Antitrypsin Pi-Types in 965 COPD patients. Chest 1986, 89(3):370\u2013373.","journal-title":"Chest"},{"issue":"4","key":"2453_CR10","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1016\/j.semerg.2016.05.003","volume":"43","author":"R Garc\u00eda-Palenzuela","year":"2017","unstructured":"Garc\u00eda-Palenzuela R, Timiraos Carrasco R, G\u00f3mez-Besteiro MI, et al. Detection of alpha-1 antitrypsin deficiency: a study on patients diagnosed with chronic obstructive pulmonary disease in primary health care. Semergen. 2017; 43(4): 289\u2013294.","journal-title":"Semergen"},{"key":"2453_CR11","doi-asserted-by":"crossref","unstructured":"Lopez-Campos JL, Casas-Maldonado F, Torres-Duran M, Medina-Gonz\u00e1lvez A, Rodriguez-Fidalgo ML, Carrascosa I, Calle M, Osaba L, Rapun N, Drobnic E et al: Results of a Diagnostic Procedure based on Multiplex Technology on dried blood spots and buccal swabs for subjects with suspected Alpha1 Antitrypsin Deficiency. Archivos de Bronconeumolog\u00eda (English Edition) 2021, 57(1):42\u201350.","DOI":"10.1016\/j.arbr.2020.04.010"},{"issue":"7","key":"2453_CR12","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1164\/rccm.168.7.818","volume":"168","author":"American Thoracic Society\/European Respiratory Society Statement","year":"2003","unstructured":"American Thoracic Society\/European Respiratory Society Statement. American Journal of Respiratory and Critical Care Medicine 2003, 168(7):818\u2013900.","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"2453_CR13","doi-asserted-by":"crossref","unstructured":"Casas F, Blanco I, Mart\u00ednez MT, Bustamante A, Miravitlles M, Cadenas S, Hern\u00e1ndez JM, L\u00e1zaro L, Rodr\u00edguez E, Rodr\u00edguez-Fr\u00edas F et al: Indications for active case searches and intravenous Alpha-1 Antitrypsin treatment for patients with Alpha-1 Antitrypsin Deficiency Chronic Pulmonary Obstructive Disease: an update. Archivos de Bronconeumolog\u00eda (English Edition) 2015, 51(4):185\u2013192.","DOI":"10.1016\/j.arbr.2014.12.006"},{"issue":"3","key":"2453_CR14","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1111\/resp.13774","volume":"25","author":"J Dummer","year":"2020","unstructured":"Dummer J, Dobler CC, Holmes M, Chambers D, Yang IA, Parkin L, Smith S, Wark P, Dev A, Hodge S et al: Diagnosis and treatment of lung disease associated with alpha one-antitrypsin deficiency: a position statement from the thoracic society of Australia and New Zealand. Respirology 2020, 25(3):321\u2013335.","journal-title":"Respirology"},{"issue":"12","key":"2453_CR15","doi-asserted-by":"publisher","first-page":"645","DOI":"10.1157\/13095974","volume":"42","author":"R Vidal","year":"2006","unstructured":"Vidal R, Blanco I, Casas F, Jard\u00ed R, Miratvilles M: Diagn\u00f3stico y tratamiento del d\u00e9ficit de alfa-1-antitripsina. Archivos de Bronconeumolog\u00eda 2006, 42(12):645\u2013659.","journal-title":"Archivos de Bronconeumolog\u00eda"},{"issue":"21","key":"2453_CR16","doi-asserted-by":"publisher","first-page":"4828","DOI":"10.1021\/bi00316a003","volume":"23","author":"GL Long","year":"1984","unstructured":"Long GL, Chandra T, Woo SLC, Davie EW, Kurachi K: Complete sequence of the cDNA for human alpha1-antitrypsin and the gene for the S variant. Biochemistry 1984, 23(21):4828\u20134837.","journal-title":"Biochemistry"},{"key":"2453_CR17","unstructured":"Blanco I, Lara B: D\u00e9ficit de alfa-1 antitripsina: fisiopatolog\u00eda, enfermedades relacionadas, diagn\u00f3stico y tratamiento: RESPIRA-Fundaci\u00f3n Espa\u00f1ol del Pulm\u00f3n-SEPAR; 2016."},{"issue":"5","key":"2453_CR18","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1590\/S1806-37562015000000180","volume":"42","author":"R Russo","year":"2016","unstructured":"Russo R, Zillmer LR, Nascimento OA, Manzano B, Ivanaga IT, Fritscher L, Lundgren F, Miravitlles M, Gondim HDC, Santos GJ et al: Prevalence of alpha-1 antitrypsin deficiency and allele frequency in patients with COPD in Brazil. J Bras Pneumol 2016, 42(5):311\u2013316.","journal-title":"J Bras Pneumol"},{"issue":"5","key":"2453_CR19","first-page":"397","volume":"75","author":"World Health Organization","year":"1997","unstructured":"World Health Organization: Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ 1997, 75(5):397\u2013415.","journal-title":"Bull World Health Organ"},{"issue":"2","key":"2453_CR20","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1155\/2012\/920918","volume":"19","author":"DD Marciniuk","year":"2012","unstructured":"Marciniuk DD, Hernandez P, Balter M, Bourbeau J, Chapman KR, Ford GT, Lauzon JL, Maltais F, O\u2019Donnell DE, Goodridge D et al: Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a canadian thoracic society clinical practice guideline. Can Respir J 2012, 19(2):109\u2013116.","journal-title":"Can Respir J"},{"issue":"1","key":"2453_CR21","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.arbres.2021.03.005","volume":"58","author":"M Miravitlles","year":"2022","unstructured":"Miravitlles M, Calle M, Molina J, Almagro P, G\u00f3mez J-T, Trigueros JA, Cos\u00edo BG, Casanova C, L\u00f3pez-Campos JL, Riesco JA et al: Actualizaci\u00f3n 2021 de la Gu\u00eda Espa\u00f1ola de la EPOC (GesEPOC). Tratamiento farmacol\u00f3gico de la EPOC estable. Archivos de Bronconeumolog\u00eda 2022, 58(1):69\u201381.","journal-title":"Archivos de Bronconeumolog\u00eda"},{"issue":"3","key":"2453_CR22","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1164\/rccm.201108-1428CI","volume":"185","author":"JK Stoller","year":"2012","unstructured":"Stoller JK, Aboussouan LS: A review of \u03b11-Antitrypsin Deficiency. American Journal of Respiratory and Critical Care Medicine 2012, 185(3):246\u2013259.","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"issue":"8","key":"2453_CR23","doi-asserted-by":"publisher","first-page":"1331","DOI":"10.1373\/clinchem.2007.102798","volume":"54","author":"M Zorzetto","year":"2008","unstructured":"Zorzetto M, Russi E, Senn O, Imboden M, Ferrarotti I, Tinelli C, Campo I, Ottaviani S, Scabini R, von Eckardstein A et al: SERPINA1 gene variants in individuals from the General Population with reduced \u03b11-Antitrypsin concentrations. Clinical Chemistry 2008, 54(8):1331\u20131338.","journal-title":"Clinical Chemistry"},{"issue":"4","key":"2453_CR24","first-page":"406","volume":"1","author":"CL Bartels","year":"2009","unstructured":"Bartels CL, Marchetti AL, Edward Highsmith W, Tsongalis GJ: Real time PCR detection of the PI*Z and PI*S mutations associated with alpha-1 antitrypsin deficiency. American journal of translational research 2009, 1(4):406\u2013411.","journal-title":"American journal of translational research"},{"key":"2453_CR25","doi-asserted-by":"crossref","unstructured":"Miravitlles M, Brusasco V: Alpha1-antitrypsin deficiency: the contribution of national registries to the understanding of the disorder. A journal Supplement in memory of Professor Maurizio Luisetti. COPD: Journal of Chronic Obstructive Pulmonary Disease 2015, 12(1):1\u20132.","DOI":"10.3109\/15412555.2015.1003463"},{"issue":"9","key":"2453_CR26","doi-asserted-by":"publisher","first-page":"1400","DOI":"10.1016\/j.rmed.2013.04.023","volume":"107","author":"T Greulich","year":"2013","unstructured":"Greulich T, Ottaviani S, Bals R, Lepper PM, Vogelmeier C, Luisetti M, Ferrarotti I: Alpha1-antitrypsin deficiency \u2013 diagnostic testing and disease awareness in Germany and Italy. Respiratory Medicine 2013, 107(9):1400\u20131408.","journal-title":"Respiratory Medicine"}],"container-title":["BMC Pulmonary Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12890-023-02453-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12890-023-02453-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12890-023-02453-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T11:06:38Z","timestamp":1683198398000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpulmmed.biomedcentral.com\/articles\/10.1186\/s12890-023-02453-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,4]]},"references-count":26,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["2453"],"URL":"https:\/\/doi.org\/10.1186\/s12890-023-02453-0","relation":{},"ISSN":["1471-2466"],"issn-type":[{"value":"1471-2466","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,4]]},"assertion":[{"value":"14 February 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 April 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 May 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the research ethics committee of the Colombian Respiratory Medicine Foundation (Fundaci\u00f3n Neumol\u00f3gica Colombiana), as stated in minute 257 of 18 August 2020. This research was carried out in accordance with the guideline for Good Clinical Practice, under the guidelines established in the Declaration of Helsinki and according to resolution No. 008430 of 1993, which sets out the scientific, technical and administrative standards for health research in Colombia. The patients authorised their participation in the study by giving their written informed consent. Participant confidentiality was maintained by replacing their names with numerical codes assigned solely for the purposes of the study. The database was anonymised and there were no data that might enable patient identification, to guarantee their confidentiality. Additionally, biological samples were rendered anonymous with a consecutive code.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not Applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The sponsor did not participate in the design, data collection, or data analysis of this study. All authors declare that they have no other conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"156"}}