The prevalence of alpha-1 antitrypsin deficiency in Ireland

Respiratory Research

Volumn 12, Issue , 2011, Pages

  Carroll, Tomás P ^a   O'Connor, Catherine A ^a   Floyd, Olwen ^a   McPartlin, Joseph ^b   Kelleher, Dermot P ^b   O'Brien, Geraldine ^a   Dimitrov, Borislav D ^c   Morris, Valerie B ^a   Taggart, Clifford C ^d   McElvaney, Noel G ^a  

^a BEAUMONT HOSPITAL   (Ireland)

^b ST JAMES S HOSPITAL   (Ireland)

^c ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

^d QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN; DNA; SERINE PROTEINASE INHIBITOR; SERPIN 1A PROTEIN; UNCLASSIFIED DRUG; SERPINA1 PROTEIN, HUMAN;

ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; GENE FREQUENCY; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IRELAND; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PHENOTYPE; PRACTICE GUIDELINE; PREVALENCE; PROTEIN BLOOD LEVEL; CHI SQUARE DISTRIBUTION; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HEALTH SURVEY; MASS SCREENING; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; RISK; RISK ASSESSMENT; RISK FACTOR;

ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; CHI-SQUARE DISTRIBUTION; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEALTH SURVEYS; HUMANS; IRELAND; MASS SCREENING; MUTATION; ODDS RATIO; PHENOTYPE; PREVALENCE; RISK ASSESSMENT; RISK FACTORS;

EID: 79960143751     PISSN: 14659921     EISSN: 1465993X     Source Type: Journal    
DOI: 10.1186/1465-9921-12-91     Document Type: Article

References (45)

1. Laurell CB, Eriksson SE. The electrophoretic alpha-globulin pattern of serum in alpha1-antitrypsin deficiency. Scand J Clin Lab Invest 1963, 15:132-140.
2. Sveger T. Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med 1976, 294:1316-1321.
3. Edmonds BK, Hodge JA, Rietschel RL. Alpha 1-antitrypsin deficiency-associated panniculitis: case report and review of the literature. Pediatr Dermatol 1991, 8:296-299.
4. King MA, Stone JA, Diaz PT, Mueller CF, Becker WJ, Gadek JE. Alpha 1-antitrypsin deficiency: evaluation of bronchiectasis with CT. Radiology 1996, 199:137-141.
5. Lewis M, Kallenbach J, Zaltzman M, Levy H, Lurie D, Baynes R, King P, Meyers A. Severe deficiency of alpha 1-antitrypsin associated with cutaneous vasculitis, rapidly progressive glomerulonephritis, and colitis. Am J Med 1985, 79:489-494.
6. Barnett VT, Sekosan M, Khurshid A. Wegener's granulomatosis and alpha1-antitrypsin-deficiency emphysema: proteinase-related diseases. Chest 1999, 116:253-255.
7. Yang P, Bamlet WR, Sun Z, Ebbert JO, Aubry MC, Krowka MJ, Taylor WR, Marks RS, Deschamps C, Swensen SJ, et al. Alpha1-antitrypsin and neutrophil elastase imbalance and lung cancer risk. Chest 2005, 128:445-452.
8. Greene CM, Miller SD, Carroll T, McLean C, O'Mahony M, Lawless MW, O'Neill SJ, Taggart CC, McElvaney NG. Alpha-1 antitrypsin deficiency: a conformational disease associated with lung and liver manifestations. J Inherit Metab Dis 2008, 31:21-34.
9. DeMeo DL, Silverman EK. Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax 2004, 59:259-264.
10. Fregonese L, Stolk J, Frants RR, Veldhuisen B. Alpha-1 antitrypsin Null mutations and severity of emphysema. Respir Med 2008, 102:876-884.
11. Stoller JK, Sandhaus RA, Turino G, Dickson R, Rodgers K, Strange C. Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problem. Chest 2005, 128:1989-1994.
12. 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 2003, 168:818-900.
13. Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ 1997, 75:397-415.
14. Brantly ML, Wittes JT, Vogelmeier CF, Hubbard RC, Fells GA, Crystal RG. Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes. Chest 1991, 100:703-708.
15. Alexander RL. Comparison of radial immunodiffusion and laser nephelometry for quantitating some serum proteins. Clin Chem 1980, 26:314-317.
16. Zerimech F, Hennache G, Bellon F, Barouh G, Jacques Lafitte J, Porchet N, Balduyck M. Evaluation of a new Sebia isoelectrofocusing kit for alpha 1-antitrypsin phenotyping with the Hydrasys System. Clin Chem Lab Med 2008, 46:260-263.
17. Rodriguez F, Jardi R, Costa X, Cotrina M, Galimany R, Vidal R, Miravitlles M. Rapid screening for alpha1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood specimens. Am J Respir Crit Care Med 2002, 166:814-817.
18. Rosner B. Fundamentals of Biostatistics 2006, Duxbury Press, 6.
19. Mahadeva R, Chang WS, Dafforn TR, Oakley DJ, Foreman RC, Calvin J, Wight DG, Lomas DA. Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis. J Clin Invest 1999, 103:999-1006.
20. Faber JP, Poller W, Weidinger S, Kirchgesser M, Schwaab R, Bidlingmaier F, Olek K. Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. Am J Hum Genet 1994, 55:1113-1121.
21. Lovegrove JU, Jeremiah S, Gillett GT, Temple IK, Povey S, Whitehouse DB. A new alpha 1-antitrypsin mutation, Thr-Met 85, (PI Zbristol) associated with novel electrophoretic properties. Ann Hum Genet 1997, 61:385-391.
22. Holme J, Stockley RA. CT scan appearance, densitometry, and health status in protease inhibitor SZ alpha1-antitrypsin deficiency. Chest 2009, 136:1284-1290.
23. 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, 26:67-76.
24. Bernspang E, Carlson J, Piitulainen E. The liver in 30-year-old individuals with alpha(1)-antitrypsin deficiency. Scand J Gastroenterol 2009, 44:1349-1355.
25. Turino GM, Barker AF, Brantly ML, Cohen AB, Connelly RP, Crystal RG, Eden E, Schluchter MD, Stoller JK. Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin Deficiency Registry Study Group. Am J Respir Crit Care Med 1996, 154:1718-1725.
26. Bourke M, O'Donovan M, Stevens FM, McCarthy CF. Alpha 1-antitrypsin phenotypes in coeliac patients and a control population in the west of Ireland. Ir J Med Sci 1993, 162:171-172.
27. Blanco I, de Serres FJ, Fernandez-Bustillo E, Lara B, Miravitlles M. Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha1-antitrypsin deficiency in European countries. Eur Respir J 2006, 27:77-84.
28. Luisetti M, Seersholm N. Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency. Thorax 2004, 59:164-169.
29. Devaney J, Glennon M, Farrell G, Ruttledge M, Smith T, Houghton JA, Maher M. Cystic fibrosis mutation frequencies in an Irish population. Clin Genet 2003, 63:121-125.
30. Farrell PM. The prevalence of cystic fibrosis in the European Union. J Cyst Fibros 2008, 7:450-453.
31. Byrnes V, Ryan E, Barrett S, Kenny P, Mayne P, Crowe J. Genetic hemochromatosis, a Celtic disease: is it now time for population screening?. Genet Test 2001, 5:127-130.
32. Mattiangeli V, Ryan AW, McManus R, Bradley DG. A genome-wide approach to identify genetic loci with a signature of natural selection in the Irish population. Genome Biol 2006, 7:R74.
33. Cox DW, Woo SL, Mansfield T. DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z. Nature 1985, 316:79-81.
34. Byth BC, Billingsley GD, Cox DW. Physical and genetic mapping of the serpin gene cluster at 14q32.1: allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency. Am J Hum Genet 1994, 55:126-133.
35. Hutchison DC. Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z. Respir Med 1998, 92:367-377.
36. Duffy S. The Concise History Of Ireland 2000, Gill & Macmillan, First.
37. Seixas S, Garcia O, Trovoada MJ, Santos MT, Amorim A, Rocha J. Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism. Hum Genet 2001, 108:20-30.
38. Carracedo A, Concheiro L. Distribution of the Pi, TfC, and Gc subtypes in Galicia (North West Spain). Z Rechtsmed 1983, 90:153-158.
39. McEvoy B, Richards M, Forster P, Bradley DG. The Longue Duree of genetic ancestry: multiple genetic marker systems and Celtic origins on the Atlantic facade of Europe. Am J Hum Genet 2004, 75:693-702.
40. Lomas DA. The selective advantage of alpha1-antitrypsin deficiency. Am J Respir Crit Care Med 2006, 173:1072-1077.
41. Mulgrew AT, Taggart CC, Lawless MW, Greene CM, Brantly ML, O'Neill SJ, McElvaney NG. Z alpha1-antitrypsin polymerizes in the lung and acts as a neutrophil chemoattractant. Chest 2004, 125:1952-1957.
42. Malerba M, Ricciardolo F, Radaeli A, Torregiani C, Ceriani L, Mori E, Bontempelli M, Tantucci C, Grassi V. Neutrophilic inflammation and IL-8 levels in induced sputum of alpha-1-antitrypsin PiMZ subjects. Thorax 2006, 61:129-133.
43. 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.
44. de Serres FJ. Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed. Environ Health Perspect 2003, 111:1851-1854.
45. Hogarth DK, Rachelefsky G. Screening and familial testing of patients for alpha 1-antitrypsin deficiency. Chest 2008, 133:981-988.