References
- Strnad P, McElvaney NG, Lomas DA. Alpha 1 -antitrypsin deficiency. Longo DL, editor. N Engl J Med [Internet]. 2020;382:1443–1455. Available from: http://www.nejm.org/doi/10.1056/NEJMra1910234
- Cazzola M, Stolz D, Rogliani P, et al. α 1 -antitrypsin deficiency and chronic respiratory disorders. Eur Respir Rev [Internet]. 2020;29:190073. Available from: http://err.ersjournals.com/lookup/doi/10.1183/16000617.0073-2019
- Eriksson S. Studies in alpha 1-antitrypsin deficiency. Acta Med Scand Suppl [Internet]. 1965;432:1–85. Available from: http://www.ncbi.nlm.nih.gov/pubmed/4160491
- Collins FS, Varmus H, New A. Initiative on precision medicine. N Engl J Med [Internet]. 2015;372:793–795. Available from: http://www.nejm.org/doi/10.1056/NEJMp1500523
- Druker BJ, Talpaz M, Resta DJ, et al. Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia. N Engl J Med [Internet]. 2001;344:1031–1037. Available from: http://www.nejm.org/doi/abs/10.1056/NEJM200104053441401
- Yamamoto Y, Sawa R, Okamoto N, et al. Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of (?1-antitrypsin). Hum Genet [Internet]. 1986;74:190–192. Available from: http://link.springer.com/10.1007/BF00282092
- Long GL, Chandra T, Woo SLC, et al. Complete sequence of the cDNA for human.alpha.1-antitrypsin and the gene for the S variant. Biochemistry [Internet]. 1984;23:4828–4837. Available from: https://pubs.acs.org/doi/abs/10.1021/bi00316a003
- Perlino E, Cortese R, Ciliberto G. The human alpha 1-antitrypsin gene is transcribed from two different promoters in macrophages and hepatocytes. EMBO J [Internet]. 1987;6:2767–2771. Available from: http://www.ncbi.nlm.nih.gov/pubmed/3500042
- Matamala N, Martínez MT, Lara B, et al. Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency. J Transl Med [Internet]. 2015;13:211. Available from: http://www.translational-medicine.com/content/13/1/211
- Hafeez W, Ciliberto G, Perlmutter DH. Constitutive and modulated expression of the human alpha 1 antitrypsin gene. Different transcriptional initiation sites used in three different cell types. J Clin Invest [Internet]. 1992;89:1214–1222. Available from: http://www.jci.org/articles/view/115705
- Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature [Internet]. 2020;581:434–443. Available from: https://www.nature.com/articles/s41586-020-2308-7
- Blanco I, Bueno P, Diego I, et al. Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update. Int J Chron Obstruct Pulmon Dis [Internet]. 2017;12:561–569. Available from: https://www.dovepress.com/alpha-1-antitrypsin-piz-gene-frequency-and-pizz-genotype-numbers-world-peer-reviewed-article-COPD
- Blanco I. Estimated numbers and prevalence of PI*S and PI*Z alleles of 1-antitrypsin deficiency in European countries. Eur Respir J [Internet]. 2006;27:77–84. Available from: http://erj.ersjournals.com/cgi/doi/10.1183/09031936.06.00062305
- Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α 1 -antitrypsin deficiency. Eur Respir J [Internet]. 2017;50:1700610. Available from: http://erj.ersjournals.com/lookup/doi/10.1183/13993003.00610-2017
- Stoller JK, Aboussouan LS. α1-antitrypsin deficiency. Lancet [Internet]. 2005;365:2225–2236. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0140673605667815
- Silva D, Oliveira MJ, Guimarães M, et al. Alpha-1-antitrypsin (SERPINA1) mutation spectrum: three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal. Respir Med [Internet]. 2016;116:8–18. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0954611116300786
- Lara B, Miravitlles M. Spanish registry of patients with alpha-1 antitrypsin deficiency; comparison of the characteristics of PISZ and PIZZ individuals. COPD J Chronic Obstr Pulm Dis [Internet]. 2015;12:27–31. Available from: http://www.tandfonline.com/doi/full/10.3109/15412555.2015.1021912
- Lee J, Brantly M. Molecular mechanisms of alpha1-antitrypsin null alleles. Respir Med [Internet]. 2000;94:S7–S11. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0954611100908515
- Sinden NJ, Koura F, Stockley RA. The significance of the F variant of alpha-1-antitrypsin and unique case report of a PiFF homozygote. BMC Pulm Med [Internet]. 2014;14:132. Available from: http://bmcpulmmed.biomedcentral.com/articles/10.1186/1471-2466-14-132
- American Thoracic Society/European Respiratory Society Statement. Am J Respir Crit Care Med [Internet]. 2003;168:818–900. Available from: http://www.atsjournals.org/doi/abs/10.1164/rccm.168.7.818
- Nakanishi T, Forgetta V, Handa T, et al. The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes. Eur Respir J [Internet]. 2020;56:2001441. Available from: http://erj.ersjournals.com/lookup/doi/10.1183/13993003.01441-2020
- O’Brien ML, Buist NRM, Murphey WH. Neonatal screening for alpha1-antitrypsin deficiency. J Pediatr [Internet]. 1978;92:1006–1010. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0022347678803886
- Sveger T. Liver disease in alpha 1 -antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med [Internet]. 1976;294:1316–1321. Available from: http://www.nejm.org/doi/10.1056/NEJM197606102942404
- Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ [Internet]. 1997;75:397–415. Available from: http://www.ncbi.nlm.nih.gov/pubmed/9447774
- Teckman J, Pardee E, Howell RR, et al. Appropriateness of newborn screening for α1-antitrypsin deficiency. J Pediatr Gastroenterol Nutr [Internet]. 2014;58:199–203. Available from: https://journals.lww.com/00005176-201402000-00016
- Silverman EK. Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates. Ann Intern Med [Internet]. 1989;111:982. Available from: http://annals.org/article.aspx?doi=10.7326/0003-4819-111-12-982
- Parr DG, Stoel BC, Stolk J, et al. Pattern of emphysema distribution in α1-antitrypsin deficiency influences lung function impairment. Am J Respir Crit Care Med [Internet]. 2004;170:1172–1178. Available from: http://www.atsjournals.org/doi/abs/10.1164/rccm.200406-761OC
- Bernspång E, Sveger T, Piitulainen E. Respiratory symptoms and lung function in 30-year-old individuals with alpha-1-antitrypsin deficiency. Respir Med [Internet]. 2007;101:1971–1976. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0954611107001448
- Piitulainen E, Montero LC, Nystedt-Düzakin M, et al. Lung function and CT densitometry in subjects with alpha-1-antitrypsin deficiency and healthy controls at 35 years of age. COPD J Chronic Obstr Pulm Dis [Internet]. 2015;12:162–167. Available from: https://www.tandfonline.com/doi/full/10.3109/15412555.2014.922068
- Piitulainen E, Mostafavi B, Tanash H. Health status and lung function in the Swedish alpha 1-antitrypsin deficient cohort, identified by neonatal screening, at the age of 37-40 years. Int J Chron Obstruct Pulmon Dis Available from. 2017;12:495–500. [Internet]: https://www.dovepress.com/health-status-and-lung-function-in-the-swedish-alpha-1-antitrypsin-def-peer-reviewed-article-COPD
- Silverman EK, Province MA, Rao DC, et al. A family study of the variability of pulmonary function in α 1 -antitrypsin deficiency: quantitative phenotypes. Am Rev Respir Dis [Internet]. 1990;142:1015–1021. Available from: http://www.atsjournals.org/doi/abs/10.1164/ajrccm/142.5.1015
- DeMeo DL, Campbell EJ, Brantly ML, et al. Heritability of lung function in severe alpha-1 antitrypsin deficiency. Hum Hered [Internet]. 2009;67:38–45. Available from: https://www.karger.com/Article/FullText/164397
- Silverman EK, Palmer LJ, Mosley JD, et al. Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease. Am J Hum Genet [Internet]. 2002;70:1229–1239. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0002929707625154
- Klimentidis YC, Vazquez AI, de Los Campos G, et al. Heritability of pulmonary function estimated from pedigree and whole-genome markers. Front Genet [Internet]. 2013;4. Available from: http://journal.frontiersin.org/article/10.3389/fgene.2013.00174/abstract
- Castaldi PJ, DeMeo DL, Kent DM, et al. Development of predictive models for airflow obstruction in alpha-1-antitrypsin deficiency. Am J Epidemiol [Internet]. 2009;170:1005–1013. Available from: https://academic.oup.com/aje/article-lookup/doi/10.1093/aje/kwp216
- Castaldi PJ, Demeo DL, Hersh CP, et al. Impact of non-linear smoking effects on the identification of gene-by-smoking interactions in COPD genetics studies. Thorax [Internet]. 2011;66:903–909. Available from: https://thorax.bmj.com/lookup/doi/10.1136/thx.2010.146118
- Park B, Koo S-M, An J, et al. Genome-wide assessment of gene-by-smoking interactions in COPD. Sci Rep [Internet]. 2018;8:9319. Available from: http://www.nature.com/articles/s41598-018-27463-5
- Aschard H, Lutz S, Maus B, et al. Challenges and opportunities in genome-wide environmental interaction (GWEI) studies. Hum Genet [Internet]. 2012;131:1591–1613. Available from: http://link.springer.com/10.1007/s00439-012-1192-0
- Sikdar S, Wyss AB, Lee MK, et al. Interaction between genetic risk scores for reduced pulmonary function and smoking, asthma and endotoxin. Thorax [Internet]. 2021;thoraxjnl-2020-215624. Available from: https://thorax.bmj.com/lookup/doi/10.1136/thoraxjnl-2020-215624
- Kim W, Moll M, Qiao D, et al. Smoking interaction with a polygenic risk score for reduced lung function. medRxiv [Internet]. 2021;2021.03.26.21254415. Available from: http://medrxiv.org/content/early/2021/03/29/2021.03.26.21254415.abstract
- Zhang P-D, Zhang X-R, Zhang A, et al. Associations of genetic risk and smoking with incident chronic obstructive pulmonary disease. Eur Respir J [Internet]. 2021;2101320. Available from: http://erj.ersjournals.com/lookup/doi/10.1183/13993003.01320-2021
- Sorheim I-C, Johannessen A, Gulsvik A, et al. Gender differences in COPD: are women more susceptible to smoking effects than men? Thorax [Internet]. 2010;65:480–485. Available from: https://thorax.bmj.com/lookup/doi/10.1136/thx.2009.122002
- Tam A, Churg A, Wright JL, et al. Sex Differences in Airway Remodeling in a Mouse Model of Chronic Obstructive Pulmonary Disease. Am J Respir Crit Care Med [Internet]. 2016;193:825–834. Available from: http://www.atsjournals.org/doi/10.1164/rccm.201503-0487OC
- Fähndrich S, Herr C, Greulich T, et al. Sex differences in alpha-1-antitrypsin deficiency lung disease-analysis from the German registry. COPD J Chronic Obstr Pulm Dis Available from. 2015;12:58–62. [Internet]: http://www.tandfonline.com/doi/full/10.3109/15412555.2015.1023785
- DeMeo DL, Sandhaus RA, Barker AF, et al. Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency. Thorax [Internet]. 2007;62:806–813. Available from: https://thorax.bmj.com/lookup/doi/10.1136/thx.2006.075846
- Matamala N, Gomez-Mariano G, Perez JA, et al. New cis -acting variants in PI*S background produce null phenotypes causing alpha-1 antitrypsin deficiency. Am J Respir Cell Mol Biol [Internet]. 2020;63:444–451. Available from: https://www.atsjournals.org/doi/10.1165/rcmb.2020-0021OC
- Ortega VE, Li X, O’Neal WK, et al. The Effects of rare SERPINA1 variants on lung function and emphysema in SPIROMICS. Am J Respir Crit Care Med [Internet]. 2020;201:540–554. Available from: https://www.atsjournals.org/doi/10.1164/rccm.201904-0769OC
- Novoradovsky A, Brantly ML, Waclawiw MA, et al. Endothelial nitric oxide synthase as a potential susceptibility gene in the pathogenesis of emphysema in α 1-antitrypsin deficiency. Am J Respir Cell Mol Biol [Internet]. 1999;20:441–447. Available from: http://www.atsjournals.org/doi/abs/10.1165/ajrcmb.20.3.3144
- Rodriguez F, de La Roza C, Jardi R, et al. Glutathione S-transferase P1 and lung function in patients with α 1 -antitrypsin deficiency and COPD. Chest [Internet]. 2005;127:1537–1543. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0012369215347164
- DeMeo DL, Campbell EJ, Barker AF, et al. IL10 polymorphisms are associated with airflow obstruction in severe α 1 -antitrypsin deficiency. Am J Respir Cell Mol Biol [Internet]. 2008;38:114–120. Available from: http://www.atsjournals.org/doi/abs/10.1165/rcmb.2007-0107OC
- Kim WJ, Wood AM, Barker AF, et al. Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency. Respir Res [Internet]. 2012;13:16. Available from: http://respiratory-research.com/content/13/1/16
- Hobbs BD, de Jong K, Lamontagne M, et al. Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. Nat Genet [Internet]. 2017;49:426–432. Available from: http://www.nature.com/articles/ng.3752
- Sakornsakolpat P, Prokopenko D, Lamontagne M, et al. Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. Nat Genet. 2019;51:494–505.
- Shrine N, Guyatt AL, Erzurumluoglu AM, et al. New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. Nat Genet [Internet]. 2019;51:481–493. Available from: http://www.nature.com/articles/s41588-018-0321-7
- Rigobello C, Baraldo S, Tine M, et al. Exome sequencing reveals immune genes as susceptibility modifiers in individuals with alpha1-antitrypsin deficiency. Sci Rep [Internet]. 2019 Sep 13;9:13088. Available from: internal-pdf://0137806859/Rigobello-2019-ExomeSequencingRevealsImmune.pdf
- Posey JE, O’Donnell-Luria AH, Chong JX, et al. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med [Internet]. 2019;21:798–812. Available from: http://www.nature.com/articles/s41436-018-0408-7
- Moll M, Sakornsakolpat P, Shrine N, et al. Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts. Lancet Respir Med [Internet]. 2020;8:696–708. Available from: https://linkinghub.elsevier.com/retrieve/pii/S2213260020301016
- Khera AV, Chaffin M, Aragam KG, et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet [Internet]. 2018;50:1219–1224. Available from: http://www.nature.com/articles/s41588-018-0183-z
- International Schizophrenia Consortium, Purcell SM, Wray NR, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature [Internet]. 2009;460:748–752. Available from: http://www.nature.com/articles/nature08185
- Moll M, Lutz SM, Ghosh AJ, et al. Relative contributions of family history and a polygenic risk score on COPD and related outcomes: cOPDGene and ECLIPSE studies. BMJ Open Respir Res [Internet]. 2020;7:e000755. Available from: https://bmjopenrespres.bmj.com/lookup/doi/10.1136/bmjresp-2020-000755
- Crystal RG, Brantly ML, Hubbard RC, et al. The alpha1-antitrypsin gene and its mutations. Chest [Internet]. 1989;95:196–208. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0012369216336169
- Franciosi AN, Fraughen D, Carroll TP, et al. Alpha-1 antitrypsin deficiency: clarifying the role of the putative protective threshold. Eur Respir J [Internet]. 2021;2101410. Available from: http://erj.ersjournals.com/lookup/doi/10.1183/13993003.01410-2021
- Brantly ML, Wittes JT, Vogelmeier CF, et al. Use of a highly purified α1-antitrypsin standard to establish ranges for the common normal and deficient α1-antitrypsin phenotypes. Chest [Internet]. 1991;100:703–708. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0012369216327970
- Franciosi AN, Hobbs BD, McElvaney OJ, et al. Clarifying the risk of lung disease in SZ alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med [Internet]. 2020;202:73–82. Available from: https://www.atsjournals.org/doi/10.1164/rccm.202002-0262OC
- Mazodier P, Elzouki A-NY, Segelmark M, et al. Systemic necrotizing vasculitides in severe alpha1-antitrypsin deficiency. QJM [Internet]. 1996;89:599–612. Available from: https://academic.oup.com/qjmed/article-lookup/doi/10.1093/qjmed/89.8.599
- Deshayes S, Martin Silva N, Grandhomme F, et al. Clinical effect of alpha-1 antitrypsin deficiency in antineutrophil cytoplasmic antibody–associated vasculitis: results from a French retrospective monocentric cohort. J Rheumatol [Internet]. 2019;46:1502–1508. Available from: http://www.jrheum.org/lookup/doi/10.3899/jrheum.180591
- Mahr AD, Edberg JC, Stone JH, et al. Alpha 1 -antitrypsin deficiency-related alleles Z and S and the risk of Wegener’s granulomatosis. Arthritis Rheum [Internet]. 2010;62:3760–3767. Available from: https://onlinelibrary.wiley.com/doi/10.1002/art.27742
- Greulich T, Nell C, Hohmann D, et al. The prevalence of diagnosed α 1 -antitrypsin deficiency and its comorbidities: results from a large population-based database. Eur Respir J [Internet]. 2017;49:1600154. Available from: http://erj.ersjournals.com/lookup/doi/10.1183/13993003.00154-2016
- Deshayes S, Martin Silva N, Khoy K, et al. Prevalence of anti-neutrophil cytoplasmic antibodies and associated vasculitis in COPD associated with alpha-1 antitrypsin deficiency. Chest [Internet]. 2020;158:1919–1922. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0012369220314057
- Hill AT, Campbell EJ, Bayley DL, et al. Evidence for excessive bronchial inflammation during an acute exacerbation of chronic obstructive pulmonary disease in patients with α 1 -antitrypsin deficiency (PiZ). Am J Respir Crit Care Med [Internet]. 1999;160:1968–1975. Available from: http://www.atsjournals.org/doi/abs/10.1164/ajrccm.160.6.9904097
- Balbi B, Sangiorgi C, Gnemmi I, et al. Bacterial load and inflammatory response in sputum of alpha-1 antitrypsin deficiency patients with COPD. Int J Chron Obstruct Pulmon Dis [Internet]. 2019;14:1879–1893. Available from: https://www.dovepress.com/bacterial-load-and-inflammatory-response-in-sputum-of-alpha-1-antitryp-peer-reviewed-article-COPD
- Ostermann L, Maus R, Stolper J, et al. Alpha-1 antitrypsin deficiency impairs lung antibacterial immunity in mice. JCI Insight [Internet]. 2021;6. Available from: https://insight.jci.org/articles/view/140816
- Chu J, Zang W, Vukmirovic M, et al. Gene coexpression networks reveal novel molecular endotypes in alpha-1 antitrypsin deficiency. Thorax [Internet]. 2021;76:134–143. Available from: https://thorax.bmj.com/lookup/doi/10.1136/thoraxjnl-2019-214301
- Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis J COPD Found [Internet]. 2016;3:668–682. Available from: http://journal.copdfoundation.org/jcopdf/id/1115/The-Diagnosis-and-Management-of-Alpha-1-Antitrypsin-Deficiency-in-the-Adult
- Wewers MD, Casolaro MA, Sellers SE, et al. Replacement therapy for alpha 1 -antitrypsin deficiency associated with emphysema. N Engl J Med [Internet]. 1987;316:1055–1062. Available from: http://www.nejm.org/doi/abs/10.1056/NEJM198704233161704
- Chapman KR, Burdon JGW, Piitulainen E, et al. Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial. Lancet [Internet]. 2015;386:360–368. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0140673615608601
- Brantly ML, Spencer LT, Humphries M, et al. Phase I trial of intramuscular injection of a recombinant adeno-associated virus serotype 2 α 1-antitrypsin (AAT) vector in AAT-deficient adults. Hum Gene Ther [Internet]. 2006;17:1177–1186. Available from: http://www.liebertpub.com/doi/10.1089/hum.2006.17.1177
- Brantly ML, Chulay JD, Wang L, et al. Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy. Proc Natl Acad Sci [Internet]. 2009;106:16363–16368. Available from: http://www.pnas.org/cgi/doi/10.1073/pnas.0904514106
- Sosulski ML, Stiles KM, Frenk EZ, et al. Gene therapy for alpha 1-antitrypsin deficiency with an oxidant-resistant human alpha 1-antitrypsin. JCI Insight [Internet]. 2020;5. Available from: https://insight.jci.org/articles/view/135951
- Chen Y, Li R, Zhang L, et al. Treatment of α-1 antitrypsin deficiency using hepatic-specified cells derived from human-induced pluripotent stem cells. Am J Transl Res [Internet]. 2021;13:2710–2716. Available from: http://www.ncbi.nlm.nih.gov/pubmed/34017432
- Werder RB, Kaserman JE, Packer MS, et al. Adenine base editing reduces misfolded protein accumulation and toxicity in alpha-1 antitrypsin deficient patient iPSC-hepatocytes. Mol Ther [Internet]. 2021;29:3219–3229. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1525001621003518
- Lomas DA, Irving JA, Arico‐Muendel C, et al. Development of a small molecule that corrects misfolding and increases secretion of Z α 1 ‐antitrypsin. EMBO Mol Med [Internet]. 2021;13. Available from: https://onlinelibrary.wiley.com/doi/10.15252/emmm.202013167
- Frangoul H, Altshuler D, Cappellini MD, et al. CRISPR-Cas9 gene editing for sickle cell disease and β-thalassemia. N Engl J Med [Internet]. 2021;384:252–260. Available from: http://www.nejm.org/doi/10.1056/NEJMoa2031054