Population genetic screening for alpha1-antitrypsin deficiency in a high-prevalence area

Respiration

Volumn 82, Issue 5, 2011, Pages 418-425

  Corda, Luciano ^a,c   Medicina, Daniela ^a   La Piana, Giuseppe Emanuele ^a   Bertella, Enrica ^a   Moretti, Giovanni ^b   Bianchi, Luca ^d   Pinelli, Valentina ^a   Savoldi, Gianfranco ^c   Baiardi, Paola ^e   Facchetti, Fabio ^a   Gatta, Nuccia ^f   Annesi Maesano, Isabella ^g,h   Balbi, Bruno ^d  

^a UNIVERSITY OF BRESCIA   (Italy)

^b Laboratorio di Analisi Chimico Cliniche   (Italy)

^c SPEDALI CIVILI   (Italy)

^d IRCCS   (Italy)

^e Department of Biostatistics   (Italy)

^f Associazione Nazionale ALFA1 AT   (Italy)

^g INSERM   (France)

^h SORBONNE UNIVERSITÉ   (France)

Author keywords

1 Antitrypsin deficiency; Population genetic screening

Indexed keywords

ALANINE AMINOTRANSFERASE; ALPHA 1 ANTITRYPSIN; ASPARTATE AMINOTRANSFERASE;

AGED; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA DETERMINATION; DYSPNEA; FEMALE; GENE FREQUENCY; GENETIC SCREENING; HETEROZYGOTE; HIGH RISK POPULATION; HOMOZYGOTE; HUMAN; LIVER DISEASE; LUNG DISEASE; MAJOR CLINICAL STUDY; MALE; NEPHELOMETRY; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; QUESTIONNAIRE; RATING SCALE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SYMPTOMATOLOGY;

ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; ITALY; LIVER DISEASES; LUNG DISEASES; MALE; MASS SCREENING; MIDDLE AGED; MUTATION; PHENOTYPE; PREVALENCE; QUESTIONNAIRES; RISK FACTORS;

EID: 80054745663     PISSN: 00257931     EISSN: 14230356     Source Type: Journal    
DOI: 10.1159/000325067     Document Type: Article

References (29)

1. Stockley RA: α1-Antitrypsin: More than just deficiency. Thorax 2004; 59: 363-364. (Pubitemid 38624738)
2. Stoller JK, Aboussouan LS: α1-Antitrypsin deficiency. Lancet 2005; 365: 2225-2236.
3. de Serres FJ: Worldwide racial and ethnic distribution of α1-Antitrypsin deficiency. Summary of an analysis of published genetic epidemiologic surveys. Chest 2002; 122: 1818-1829. (Pubitemid 35366098)
4. Wood AM, Stockley RA: αone antitrypsin deficiency: From gene to treatment. Respiration 2007; 74: 481-492. (Pubitemid 47206875)
5. Strange C, Stoller JK, Sandhaus RA, Dickson R, Turino G: Results of a survey of patients with α-1 antitrypsin deficiency. Respiration 2006; 73: 185-190.
6. ATS-ERS Statement: Standards for diagnosis and management of individuals with α1-Antitrypsin deficiency. Am J Respir Crit Care Med 2003; 168: 818-900.
7. Brantly M: α1-Antitrypsin genotypes and phenotypes; in Crystal RG (ed): α1-Antitrypsin Deficiency. New York, Marcel Dekker, 1996, pp 45-59.
8. Stoller JK, Sandhaus RA, Turino G, Dickson R, Rodgers K, Strange C: Delay in diagnosis of α1-Antitrypsin deficiency. A continuing problem. Chest 2005; 128: 1989-1994.
9. Aboussouan LS, Stoller JK: Detection of α-1 antitrypsin deficiency: A review. Respir Med 2009; 103: 335-341.
10. Luisetti M, Seersholm N: α1-Antitrypsin deficiency: Epidemiology. Thorax 2004; 59: 164-169.
11. Corda L, Bertella E, Pini L, Pezzini A, Medicina D, Boni E, Guerini M, Trivella S, Grassi V, Tantucci C: Diagnostic flow chart for targeted detection of α1-Antitrypsin deficiency. Respir Med 2006; 100: 463-470. (Pubitemid 43239880)
12. Nasiri H, Forouzandeh M, Rasaee MJ, Rahbarizadeh F: Modified salting-out method: High-yield, high-quality genomic DNA extraction from whole blood using laundry detergent. J Clin Lab Anal 2005; 19: 229-232. (Pubitemid 41740345)
13. Tazelaar JP, Friedman KJ, Kline RS, Guthrie ML, Farber RA: Detection of α1-Antitrypsin Z and S mutations by polymerase chain reaction-mediated site-directed mutagenesis. Clin Chem 1992; 38: 1486-1488.
14. Andolfatto S, Namour F, Garnier AL, Chabot F, Gueant JL, Aimone-Gastin I: Genomic DNA extraction from small amount of serum to be used for α1-Antitrypsin genotype analysis. Eur Respir J 2003; 21: 215-219. (Pubitemid 36204533)
15. Xiao W, Oefner PJ: Denaturing high-performance liquid chromatography: A review. Hum Mutat 2001; 17: 439-474. (Pubitemid 32480082)
16. European Community Respiratory Health Survey II Steering Committee: The European Community Respiratory Health Survey II. Eur Respir J 2002; 20: 1071-1079.
17. Bestall JC, Paul EA, Garrod R, Garnham R, Jones PW, Wedzicha JA: Usefulness of the Medical Research Council (MRC) dyspnoea scale as a measure of disability in patients with chronic obstructive pulmonary disease. Thorax 1999; 54: 581-586. (Pubitemid 29296676)
18. Homo sapiens α-1-Antitrypsin M Brescia variant (AAT) gene, AAT-M Brescia allele. www. ncbi.nlm.nih.gov/ent rez/viewer.fcgi? db=nuccore&id= 84784316. (accessed October 30th, 2010).
19. Medicina D, Montani N, Fra AM, Tiberio L, Corda L, Miranda E, Pezzini A, Bonetti F, Ingrassia R, Scabini R, Facchetti F, Schiaffonati L: Molecular characterization of the new defective α1-Antitrypsin P brescia allele. Hum Mutat 2009: 30:E771-E781.
20. Poller W, Merklein F, Schneider-Rasp S, Haack A, Fechner H, Wang H, Anagnostopoulos I, Weidinger S: Molecular characterisation of the defective α1-Antitrypsin alleles PI M wurzburg (Pro369Ser), M heerlen (Pro-369Leu), and Q0 lisbon (Thr68lle). Eur J Hum Genet 1999; 7: 321-331.
21. Graham A, Kalsheker NA, Newton CR, Bamforth FJ, Powell SJ, Markham AF: Molecular characterisation of three α-1-Antitrypsin deficiency variants: Proteinase inhibitor (Pi) nullcardiff (Asp256-Val); PiMmalton (Phe51-deletion) and PiI (Arg39-Cys). Hum Genet 1989; 84: 55-58. (Pubitemid 20022425)
22. Cook L, Burdon J, Brenton S, Janus ED, Knight K: α-1-Antitrypsin Plowell: A normally functioning variant present in low concentration. Aust N Z J Med 1995; 25: 695-697.
23. de Serres FJ, Luisetti M, Ferrarotti I, Blanco I, Fernandez-Bustillo E: α-1 antitrypsin deficiency in Italy: Regional differences of the PIS and PIZ deficiency alleles. Monaldi Arch Chest Dis 2005; 63: 133-141. (Pubitemid 41700740)
24. Brantly M: Laboratory Diagnosis of α1AT Deficiency; in: Crystal RG (ed): α-1 Antitrypsin Deficiency. Lung Biology in Health and Disease, vol. 88. New York, Drekker, 1996, pp 211-226.
25. Ferrarotti I, Baccheschi J, Zorzetto M, Tinelli C, Corda L, Balbi B, Campo I, Pozzi E, Faa G, Coni P, Massi G, Stella G, Luisetti M: Prevalence and phenotype of subjects carrying rare variants in the Italian registry for α1-Antitrypsin deficiency. J Med Genet 2005; 42: 282-287. (Pubitemid 40380312)
26. Bornhorst JA, Procter M, Meadows C, Ashwood ER, Mao R: Evaluation of an integrative diagnostic algorithm for the identification of people at risk for α1-Antitrypsin deficiency. Am J Clin Pathol 2007; 128: 482-490. (Pubitemid 47479982)
27. Ferrarotti I, Scabini R, Campo I, Ottaviani S, Zorzetto M, Gorrini M, Luisetti M: Laboratory diagnosis of α1-Antitrypsin deficiency. Translational Res 2007; 150: 267-274.
28. Spinola C, Bruges-Arnas J, Pereira C, Brehm A, Spinola H: α-1 antitrypsin deficiency in Madeira (Portugal): The highest prevalence in the world. Respir Med 2009; 103: 1498-1502.
29. Hogarth DK, Rachelefsky G: Screening and familial testing of patients for α1-Antitrypsin deficiency. Chest 2008; 133: 981-988. (Pubitemid 351536876)