120
Views
0
CrossRef citations to date
0
Altmetric
ORIGINAL RESEARCH

Alpha-1 Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT

, ORCID Icon, , , ORCID Icon & ORCID Icon
Pages 353-361 | Received 07 Nov 2023, Accepted 14 Jan 2024, Published online: 02 Feb 2024

References

  • Strnad P, McElvaney NG, Lomas DA, Longo DL. Alpha 1 -antitrypsin deficiency. N Engl J Med. 2020;382(15):1443–1455. PMID: 32268028. doi:10.1056/NEJMra1910234
  • Aiello M, Marchi L, Ferrarotti I, et al. Distribution of the clinical manifestations of alpha 1 antitrypsin deficiency in respiratory outpatients from an Area of Northern Italy. Respiration. 2022;101(9):851–858. PMID: 35793662. doi:10.1159/000525549
  • Duk K, Zdral A, Szumna B, Roży A, Chorostowska-Wynimko J. Frequency of rare alpha-1 antitrypsin variants in polish patients with chronic respiratory disorders. Adv Exp Med Biol. 2016;910:47–53. PMID: 26987331. doi:10.1007/5584_2016_213
  • Duk K, Zdral A, Szumna B, Roz Y. Frequency of rare alpha-1 antitrypsin variants in polish patients with chronic respiratory disorders. Respir Medi Sci. 2016;47–53. doi:10.1007/5584_2016_213
  • STrengthening the Reporting of OBservational studies in Epidemiology (STROBE) guidance for reporting observational research. Available from: http://strobe-statement.org/index.php?id=strobe-home. Accessed October 20, 2023..
  • Lynch DA, Austin JH, Hogg JC, et al. CT-definable subtypes of chronic obstructive pulmonary disease: a statement of the Fleischner Society. Radiology. 2015;277(1):192–205. PMID: 25961632; PMCID: PMC4613878. doi:10.1148/radiol.2015141579
  • Ortega VE, Li X, O’Neal WK, et al. NHLBI subpopulations and intermediate outcomes measures in COPD Study (SPIROMICS). The effects of rare SERPINA1 variants on lung function and emphysema in SPIROMICS. Am J Respir Crit Care Med. 2020;201(5):540–554. PMID: 31661293; PMCID: PMC7047460. doi:10.1164/rccm.201904-0769OC
  • Ferkingstad E, Oddsson A, Gretarsdottir S, et al. Genome-wide association meta-analysis yields 20 loci associated with gallstone disease. Nat Commun. 2018;9(1):5101. doi:10.1038/s41467-018-07460-y
  • Molloy K, Hersh CP, Morris VB, et al. Clarification of the risk of chronic obstructive pulmonary disease in α 1 -antitrypsin deficiency PiMZ heterozygotes. Am J Respir Crit Care Med. 2014;189(4):419–427. doi:10.1164/rccm.201311-1984OC
  • 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(8):1280–1287. doi:10.1513/AnnalsATS.201611-838OC
  • Lieberman J, Winter B, Sastre A. Alpha 1‐antitrypsin Pi‐types in 965 COPD patients. Chest. 1986;89:370–373. doi:10.1378/chest.89.3.370
  • Shigeoka JW, Hall WJ, Hyde RW, et al. The prevalence of alpha antitrypsin heterozygotes (Pi MZ) in patients with obstructive pulmonary disease. Am Rev Respir Dis. 1976;114(6):1077–1084. doi:10.1164/arrd.1976.114.6.1077
  • Cox DW, Hoeppner VH, Levison H. Protease inhibitors in patients with chronic obstructive pulmonary disease: the alpha‐antitrypsin heterozygote controversy. Am Rev Respir Dis. 1976;113(5):601–606. doi:10.1164/arrd.1976.113.5.601
  • Morse JO, Lebowitz MD, Knudson RJ, Burrows B. Relation of protease inhibitor phenotypes to obstructive lung diseases in a community. N Engl J Med. 1977;296(21):1190–1194. doi:10.1056/NEJM197705262962102
  • Franciosi AN, Carroll TP, McElvaney NG. SZ alpha-1 antitrypsin deficiency and pulmonary disease: more like MZ, not like ZZ. Thorax. 2021;76(3):298–301. PMID: 32917839. doi:10.1136/thoraxjnl-2020-215250
  • Dahl M, Hersh CP, Ly NP, Berkey CS, Silverman EK, Nordestgaard BG. The protease inhibitor PI*S allele and COPD: a meta‐analysis. Eur Respir J. 2005;26(1):67‐76. doi:10.1183/09031936.05.00135704
  • Stoller JK, Aboussouan LS. A review of α 1 -antitrypsin deficiency. Am J Respir Crit Care Med. 2012;185(3):246‐259. doi:10.1164/rccm.201108-1428CI
  • Veith M, Tüffers J, Peychev E, et al. The distribution of alpha-1 antitrypsin genotypes between patients with COPD/emphysema, asthma and bronchiectasis. Int J Chron Obstruct Pulmon Dis. 2020;15:2827–2836. PMID: 33192056; PMCID: PMC7654539. doi:10.2147/COPD.S271810
  • Toumpanakis D, Usmani OS. Small airways disease in patients with alpha-1 antitrypsin deficiency. Respir Med. 2023;211:107222. PMID: 36965591. doi:10.1016/j.rmed.2023.107222
  • Kim WD, Eidelman D, Izquierdo JL, Ghezzo H, Saetta MP, Cosio MG. ”Centrilobular and Panlobular emphysema in smokers. Two distinct morphological and functional entities”. Amer Rev Respir Dis. 1991;144(6):1385–1390. doi:10.1164/ajrccm/144.6.1385
  • Saetta M, Kim WD, Izquierdo JL, Ghezzo H, Cosio MG. Extent of centrilobular and panacinar emphysema in smokers’ lungs: pathological and mechanical implications. Eur Respir J. 1994;7:664–671. doi:10.1183/09031936.94.07040664