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Original Research

Estimated Prevalence and Number of PiMZ Genotypes of Alpha-1 Antitrypsin in Seventy-Four Countries Worldwide

, ORCID Icon, ORCID Icon, & ORCID Icon
Pages 2617-2630 | Published online: 17 Sep 2021

References

  • Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency. Eur Respir J. 2017;50:1700610.
  • Seixas S, Marques PI. Known mutations at the cause of Alpha-1 antitrypsin deficiency an updated overview of SERPINA1 variation spectrum. Appl Clin Genet. 2021;14:173–194.
  • de Serres F, Blanco I. Role of alpha-1 antitrypsin in human health and disease. J Intern Med. 2014;276:311–335.
  • Stoller JK, Hupertz V, Aboussouan LS. Alpha-1 antitrypsin deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle: University of Washington, Seattle; 2006:1993–2020.
  • Lomas DA, Evans DL, Finch JT, Carrell RW. The mechanism of Z α1 antitrypsin accumulation in the liver. Nature. 1992;357:605–607.
  • Strnad P, McElvaney NG, Lomas DA. Alpha(1)-antitrypsin deficiency. N Engl J Med. 2020;382:1443–1455.
  • Laurell CB, Eriksson S. The electrophoretic alpha1-globulin pattern of serum in alpha1-antitrypsin deficiency. Scan J Clin Lab Invest. 1963;15:132–140.
  • Fagerhol MK, Hauge HE. Serum Pi types in patients with pulmonary disease. Acta Allergol. 1969;24:107–109.
  • Welch MH, Reinecke ME, Hammarsten JF, Guenter CA. -1 antitrypsin deficiency in pulmonary disease; the significance of intermediate levels. Ann Intern Med. 1969;71:533–537.
  • Talamo RC, Langley CE, Levine BW, Kazemi H. Genetic vs. quantitative analysis of serum −1 antitrypsin. N Engl J Med. 1972;287:1067–1069.
  • Gerblich AA, Kleinerman J, Rynbrandt DJ, Chester EH, Ihrig J. Pi-Z phenotypes in a pulmonary clinic: their prevalence and physiologic state. Am J Clin Pathol. 1978;69:509–513.
  • Kueppers F, Donhardt A. Obstructive lung disease in heterozygotes for −1 antitrypsin deficiency. Ann Intern Med. 1974;80:209–212.
  • Mittman C, Lieberman J, Rumsfeld J. Prevalence of abnormal protease inhibitor phenotypes in patients with chronic obstructive lung disease. Am Rev Respir Dis. 1974;109:295–296.
  • Barnett TB, Gottovi D, Johnson AM. Protease inhibitors in chronic obstructive pulmonary disease. Am Rev Respir Dis. 1975;111:587–593.
  • Cox DW, Hoeppner VH, Levison H. Protease inhibitors in patients with chronic obstructive pulmonary disease: the a-1 antitrypsin heterozygote controversy. Am Rev Respir Dis. 1976;113:601–606.
  • Shigeoka JW, Hall WJ, Hyde RW, et al. The prevalence of α-1 antitrypsin heterozygotes (PiMZ) in patients with obstructive pulmonary disease. Am Rev Respir Dis. 1976;114:1077–1084.
  • Lochon BDV, Lochon C, Fournier M, Martin JP, Derenne JP, Pariente R. Pan-lobular emphysema: relationship with serum α-1 antitrypsin levels, Pi phenotype and the HLA system. Nouv Presse Med. 1978;7:1167–1170.
  • Stockley RA. Alpha-1-antitrypsin phenotypes in cor pulmonale due to chronic obstructive airways disease. Q J Med. 1979;48:419–428.
  • Bruce RM, Cohen BH, Diamond EL, et al. Collaborative study to assess risk of lung disease in Pi MZ phenotype subjects. Am Rev Respir Dis. 1984;130:386–390.
  • Bartmann K, Fooke-Achterrath M, Koch G, et al. Heterozygosity in the Pi-system as a pathogenetic cofactor in chronic obstructive pulmonary disease (COPD). Eur J Respir Dis. 1985;66:284–296.
  • Klasen EC, Biemond I, Laros CD. α-1 antitrypsin deficiency and the flaccid lung syndrome: the heterozygote controversy. Clin Genet. 1986;29:211–215.
  • Lieberman J, Winter B, Sastre A. α-1 antitrypsin Pi-types in 965 COPD patients. Chest. 1986;89:370–373.
  • Hersh CP, Dahl M, Ly NP, Berkey CS, Nordestgaard BG, Silverman EK. Chronic obstructive pulmonary disease in alpha1-antitrypsin PI MZ heterozygotes: a meta-analysis. Thorax. 2004;59:843–849.
  • Sørheim IC, Bakke P, Gulsvik A, et al. α1-Antitrypsin protease inhibitor MZ heterozygosity is associated with airflow obstruction in two large cohorts. Chest. 2010;138:1125–1132.
  • Molloy K, Hersh CP, Morris VB, et al. Clarification of the risk of chronic obstructive pulmonary disease in alpha-1 antitrypsin deficiency PiMZ heterozygotes. Am J Respir Crit Care Med. 2014;189:419–427.
  • Foreman MG, Wilson C, DeMeo DL, et al. Alpha-1 antitrypsin PiMZ genotype is associated with chronic obstructive pulmonary disease in two racial groups. Ann Am Thorac Soc. 2017;14:1280–1287.
  • Al Ashry HS, Strange C. COPD in individuals with the PiMZ alpha-1 antitrypsin genotype. Eur Respir Rev. 2017;26:170068.
  • Pittschieler K. Liver involvement in alpha-1 antitrypsin-deficient phenotypes PiSZ and PiMZ. Acta Paediatr. 2002;91:239–240.
  • Graziadei IW, Joseph JJ, Wiesner RH, Therneau TM, Batts KP, Porayko MK. Increased risk of chronic liver failure in adults with heterozygous alpha1-antitrypsin deficiency. Hepatology. 1998;28:1058–1063.
  • Schaefer B, Mandorfer M, Viveiros A, et al. Heterozygosity for the alpha-1-antitrypsin Z allele in cirrhosis is associated with more advanced disease. Liver Transpl. 2018;24:744–751.
  • Strnad P, Buch S, Hamesch K, et al. Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis. Gut. 2019;68:1099–1107.
  • Shah RS, Alsuleiman B, Bena J, Stoller JK, Wakim-Fleming J. Alpha-1 antitrypsin deficiency is under-recognized in individuals with cirrhosis undergoing liver transplantation. Eur J Gastroenterol Hepatol. 2020. doi:10.1097/MEG.0000000000002005
  • de Serres FJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest. 2002;122:1818–1829.
  • 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. 2017;12:561–569.
  • Blanco I, Bueno P, Diego I, et al. Alpha-1 antitrypsin Pi*SZ genotype: estimated prevalence and number of SZ subjects worldwide. Int J Chron Obstruct Pulmon Dis. 2017;12:1683–1694.
  • Blanco I, Diego I, Bueno P, Pérez-Holanda S, Casas-Maldonado F, Miravitlles M. Prevalence of α1-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review. Eur Respir Rev. 2020;29:200014.
  • Chan-Yeung M, Ashley MJ, Corey P, Maledy H. Pi phenotypes and the prevalence of chest symptoms and lung function abnormalities in workers employed in dusty industries. Am Rev Respir Dis. 1978;117:239–245.
  • Beckman G, Beckman L, Mikaelsson B, Rudolphi O, Stjernberg N, Wiman LG. Alpha-1-antitrypsin types and chronic obstructive lung disease in an industrial community in Northern Sweden. Hum Hered. 1980;30:299–306.
  • Banauch GI, Brantly M, Izbicki G, et al. Accelerated spirometric decline in New York City firefighters with α1-antitrypsin deficiency. Chest. 2010;138:1116–1124.
  • Mehta AJ, Thun GA, Imboden M, et al. Interactions between SERPINA1 PiMZ genotype, occupational exposure and lung function decline. Occup Environ Med. 2014;71:234–240.
  • Pons M, Nuñez A, Esquinas C, et al. Utility of transient elastography for screening of liver disease in patients with alpha1-antitrypsin deficiency. J Clin Med. 2021;10:1724.
  • Barjaktarevic I, Miravitlles M. Alpha-1 antitrypsin (AAT) augmentation therapy in individuals with the PI*MZ genotype: a pro/con debate on a working hypothesis. BMC Pulm Med. 2021;21:99.
  • Blanco I. A well-designed/conducted study on alpha-1 antitrypsin epidemiology not quoted. Eur Respir J. 2018;51:1702662.
  • Pathak U, Gupta NC, Suri JC. Risk of COPD due to indoor air pollution from biomass cooking fuel: a systematic review and meta-analysis. Int J Environ Health Res. 2020;30:75–88.
  • Holm KE, Mannino DM, Choate R, Sandhaus RA. Genotype is associated with smoking and other key health behaviors among individuals with alpha-1 antitrypsin deficiency-associated lung disease. Respir Med. 2018;143:48–55.
  • Franciosi AN, Alkhunaizi MA, Woodsmith A, et al. Alpha-1 antitrypsin deficiency and tobacco smoking: exploring risk factors and smoking cessation in a registry population. COPD. 2021;18(1):76–82.
  • Crystal RG. Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy. J Clin Invest. 1990;85:1343–1352.
  • Bornhorst JA, Greene DN, Ashwood ER, Grenache DG. Alpha1-antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. Chest. 2013;143:1000–1008.
  • Ferrarotti I, Thun GA, Zorzetto M, et al. Serum levels and genotype distribution of alpha1-antitrypsin in the general population. Thorax. 2012;67:669–674.
  • Strange C, Monk R, Schwarz L, Walker D, Kumbhare S, Bieko T. The United States Alpha-1 foundation research registry: genesis, impact and future. COPD. 2015;12(Suppl 1):42–45.
  • Donato LJ, Karras RM, Katzmann JA, Murray DL, Snyder MR. Quantitation of circulating wild-type alpha-1-antitrypsin in heterozygous carriers of the S and Z deficiency alleles. Respir Res. 2015;16:96.
  • Alam S, Li Z, Atkinson C, Jonigk D, Janciauskiene S, Mahadeva R. Z α1-antitrypsin confers a proinflammatory phenotype that contributes to chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 2014;189:909–931.
  • Janciauskiene SM, Bals R, Koczulla R, Vogelmeier C, Köhnlein T, Welte T. The discovery of α1-antitrypsin and its role in health and disease. Respir Med. 2011;105:1129–1139.
  • Ellis P, Turner A. What do Alpha-1 antitrypsin levels tell us about chronic inflammation in COPD? Arch Bronconeumol. 2020;56(2):72–73.
  • Janciauskiene S, DeLuca DS, Barrecheguren M, Welte T, Miravitlles M. Serum levels of Alpha1-antitrypsin and their relationship with COPD in the General Spanish Population. Arch Bronconeumol. 2020;56:76–83.
  • Matamala N, Lara B, Gómez-Mariano G, et al. miR-320c regulates SERPINA1 expression and is induced in patients with pulmonary disease. Arch Bronconeumol. 2021;57(4):457–463.
  • Matamala N, Lara B, Gomez-Mariano G, et al. Characterization of novel missense variants of SERPINA1 gene causing Alpha-1 antitrypsin deficiency. Am J Respir Cell Mol Biol. 2018;58:706–716.
  • Martin T, Miravitlles M, Tello Furtado S. A PI*MS is not always a PI*MS. An example of when genotyping for alpha-1 antitrypsin deficiency is necessary. Pulmonology. 2021;27:257–276.
  • Foil KE, Blanton MG, Sanders C, et al. Sequencing Alpha-1 MZ individuals shows frequent biallelic mutations. Pulm Med. 2018;2018:2836389.
  • Miravitlles M, Nuñez A, Torres-Durán M, et al. The importance of reference centers and registries for rare diseases: the example of Alpha-1 antitrypsin deficiency. COPD. 2020;17(4):346–354.