Prevalence of α1-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

Volumn 6, Issue 5, 2012, Pages 277-295

  de Serres, Frederick J ^a   Blanco, Ignacio ^b  

^a NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

^b Biomedical Research Office (OIB FICYT)   (Spain)

Author keywords

genetic epidemiology; PI phenotypes; PI subtypes; SERPINA1; 1 antitrypsin deficiency

Indexed keywords

ALPHA 1 ANTITRYPSIN;

ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; GENETIC EPIDEMIOLOGY; GENETIC SCREENING; GEOGRAPHY; HUMAN; PHENOTYPE; POPULATION GENETICS; POPULATION SIZE; PREVALENCE; PRIORITY JOURNAL; REVIEW;

ALLELES; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; DATABASES, GENETIC; GENE FREQUENCY; HUMANS; MOLECULAR EPIDEMIOLOGY; PHENOTYPE; PREVALENCE; WORLD HEALTH;

EID: 84866488006     PISSN: 17534658     EISSN: 17534666     Source Type: Journal    
DOI: 10.1177/1753465812457113     Document Type: Review

References (28)

1. Blanco I. Bustillo E.F. Rodriguez M. C. (2001a) Distribution of alpha1-antitrypsin PI S and PI Z frequencies in countries outside Europe: a meta-analysis. Clin Genet 60: 431–441.
2. Blanco I. Fernandez E. Bustillo E.F. (2001b) Alpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys. Clin Genet 60: 31–41.
3. Blanco I. de Serres F.J. Bustillo E.F. Rodriguez C. (2004) Cálculo estimativo del número de sujetos con déficit congénito de Alfa-1-antitripsina en España (alelos PIS y PIZ) y su distribución por fenotipos. Med Clin (Barc) 123 (20): 761–765.
4. Blanco I. Fernández E. (2006) Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha1-antitrypsin deficiency in European countries. Eur Respir J 27: 77–84.
5. Blanco I. Fernández E. (2001) Alpha1-antitrypsin Pi phenotypes S and Z in Spain: an analysis of the published surveys. Respir Med 95: 109–114.
6. Brantly M. Nukiwa T. Crystal R.G. (1988a) Molecular basis of alpha-1-antitrypsin deficiency. Am J Med 84: 13–31.
7. Brantly M. Paul L.D. Miller B.H. Falk R.T. Wu M. Crystal R.G. (1988b) Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms. Am Rev Respir Dis 138: 327–336.
8. Carroll T.P. O–Connor C. A. Floyd O. McPartlin J. Kelleher D. P. O–Brien G. (2011) The prevalence of alpha-1 antitrypsin deficiency in Ireland. Respir Res 12: 91.
9. Denden S. Zorzetto M. Amri F. Knani J. Ottaviani S. Scabini R. (2009) Screening for alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report. Orphanet J Rare Dis 4: 12.
10. de Serres F. (2002) Worldwide racial and ethnic distribution of alpha(1)-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest 122: 1818–1829.
11. de Serres F. (2003) Alpha-1 antitrypsin deficiency is not a rare disease, but a disease that is rarely diagnosed. Environ Health Perspect 111: 1851–1854.
12. de Serres F. Blanco I. Fernandez-Bustillo E. (2003a) Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America. Clin Genet 64: 382–397.
13. de Serres F. Blanco I. Fernandez-Bustillo E. (2003b) Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain. Clin Genet 63: 490–509.
14. de Serres F. Blanco I. Fernandez-Bustillo E. (2005a) Health implications of alpha(1)-antitrypsin deficiency in Sub-Sahara African countries and their emigrants in Europe and the New World. Genet Med 7: 175–184.
15. de Serres F. Luisetti M. Ferrarotti I. Blanco I. Fernandez-Bustillo E. (2005b) Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles of alpha-1 antitrypsin deficiency in Italy. Monaldi Arch Chest Dis 63: 133–141.
16. de Serres F. Blanco I. Fernandez-Bustillo E. (2006a) Estimated numbers and prevalence of PI*S and PI*Z deficiency alleles of {alpha 1-antitrypsin deficiency in Asia. Eur Respir J 28: 1091–1099.
17. de Serres F. Blanco I. Fernandez-Bustillo E. (2006b) Estimating the risk for alpha-1 antitrypsin deficiency among COPD patients: evidence supporting targeted screening. J COPD 3: 133–139.
18. de Serres F. Blanco I. Fernandez-Bustillo E. (2007) PI S and PI Z alpha-1 antitrypsin deficiency worldwide. A review of existing genetic epidemiological data. Monaldi Arch Chest Dis 67: 184–208.
19. Hutchison D. (1990) The epidemiology of alpha 1-antitrypsin deficiency. Lung 168(Suppl.): 535–542.
20. Hutchison D. (1998) Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z. Respir Med 92: 367–377.
21. Laurell C. Eriksson S. (1963) The electrophoretic alpha1-globulin pattern of serum in alpha1-antitrypsin deficiency. Scand J Clin Lab Invest 15: 132–140.
22. Lomas D. Evans D. Finch J. Carrell R. (1992) The mechanism of Z alpha 1-antitrypsin accumulation in the liver. Nature 357: 605–607.
23. Mayer A. Stoller J. Bartelson B. Ruttenber A. Sandhaus R. Newman L. (2000) Occupational exposure risks in individuals with Pi*Z alpha1-antitrypsin deficiency. Am J Respir Crit Care Med 162: 553–558.
24. Rodriguez-Frias F. Miravitlles M. Vidal R. Camos S. Jardi R. (2012) Rare alpha-1-antitrypsin variants: are they really so rare? Ther Adv Respir Dis 6: 79–85.
25. Sigsgaard T. Brandslund I. Omland O. Hjort C. Lund E.D. Pedersen O.F. (2000) S and Z alpha1-antitrypsin alleles are risk factors for bronchial hyperresponsiveness in young farmers: an example of gene/environment interaction. Eur Respir J 16: 50–55.
26. Spínola C. Bruges-Armas J. Pereira C. Brehm A. Spínola H. (2009) Alpha-1-antitrypsin deficiency in Madeira (Portugal): the highest prevalence in the world. Respir Med 103: 1498–1502.
27. Stoller J. Snider G.L. Brantly M.L. (2003a) American Thoracic Society/European Respiratory Society Statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 68: 818–855.
28. Stoller J. Brantly G.L. Fallat M.L. (2003b) Genetic testing for alpha-1 antitrypsin deficiency: ethical, legal, psychologic, social, and economic issues. Am J Respir Crit Care Med 168: 874–900.