SERPINA1 gene variants in individuals from the general population with reduced α1-antitrypsin concentrations

Clinical Chemistry

Volumn 54, Issue 8, 2008, Pages 1331-1338

  Zorzetto, Michele ^a   Russi, Erich ^b   Senn, Oliver ^b,c   Imboden, Medea ^b,c   Ferrarotti, Ilaria ^a   Tinelli, Carmine ^a   Campo, Ilaria ^a   Ottaviani, Stefania ^a   Scabini, Roberta ^a   Von Eckardstein, Arnold ^b   Berger, Wolfgang ^c   Brändli, Otto ^d   Rochat, Thierry ^e   Luisetti, Maurizio ^a   Probst Hensch, Nicole ^b,c  

^a UNIVERSITY OF PAVIA   (Italy)

^b UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d University Hospital of Zürich ^*  (Switzerland)

^e GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN;

ADULT; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; EXON; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PROTEIN BLOOD LEVEL; SERPINA1 GENE;

ADOLESCENT; ADULT; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; COHORT STUDIES; CROSS-SECTIONAL STUDIES; HUMANS; MIDDLE AGED; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; VARIATION (GENETICS);

EID: 48949095935     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2007.102798     Document Type: Article

References (32)

1. Silverman GA, Bird PI, Carrell RW, Church FC, Coughlin PB, Gettings PGW, et al. The serpins are an expanding superfamily of structurally similar but functionally diverse proteins. J Biol Chem 2001;276:33293-6.
2. 1-Antitrypsin Deficiency. New York: Marcel Dekker, 1996;45-59.
3. 1 antitrypsin deficiency. Thorax 2004;59:164-9.
4. 1-antitrypsin deficiency. Am J Respir Crit Care Med 2003;168:818-900.
5. 1-antitrypsin deficiency. J Med Genet 2005;42:282-7.
6. 1-antitrypsin PI MZ heterozygotes: a meta-analysis. Thorax 2004;59:843-9.
7. Martin BW, Ackermann-Liebrich U, Leuenberger P, Kunzli N, Stutz EZ, Keller R, et al. SAPALDIA: methods and participation in the cross-sectional part of the Swiss Study on Air Pollution and Lung Diseases in Adults. Soz Praventivmed 1997;42:67-84.
8. Ackermann-Liebrich U, Kuna-Dibbert B, Probst-Hensch NM, Schindler C, Dietrich DF, Stutz EZ, et al. Follow-up of the Swiss Cohort Study on Air Pollution and Lung Diseases in Adults (SAPALDIA 2) 1991-2003: methods and characterization of participants. Soz Praventivmed 2005;50:1-19.
9. 1-antitrypsin in human dried blood spots. Clin Chem 2006;52:899-901.
10. Imboden M, Downs SH, Senn O, Matyas G, Brändli O, Russi EW, et al. Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study. Respir Res 2007;8:2.
11. 1-antitrypsin variants. Diagn Mol Pathol 2004;12:160-3.
12. Metz CE. Basic principles of ROC analysis. Semin Nucl Med 1978;8:283-98.
13. Celli BR, MacNee W, Agusti A, Anzueto A, Berg B, Buist AS, et al. Standards for diagnosis and treatment of patients with COPD: a summary of the ATS/ERS position paper. Eur Respir J 2004;23:932-46.
14. 1- Antitrypsin deficiency and lung disease: risk modification by occupational and environmental inhalants. Eur Respir J 2005;26:1-9.
15. 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.
16. 1-antitrypsin deficiency targeted detection programme. Respir Med 2008;102:354-8.
17. 1-antitrypsin deficiency: MZ individuals with chronic obstructive pulmonary disease may have lower lung function than MM individuals. Clin Chem 2001;47:56-62.
18. 1-antitrypsin deficiency: effects of cigarette smoking, measured genotype, and their interaction on pulmonary function and biochemical traits. Genet Epidemiol 1992;9:317-31.
19. 1-antitrypsin deficiency (PiMZ) on lung function. Eur J Respir Dis 1985;67:279-85.
20. 1-antitrypsin heterozygotes of phenotype PiMZ. Am J Respir Crit Care Med 2000;16:81-4.
21. 1-antitrypsin MZ heterozygotes: a longitudinal study of the general population. Ann Intern Med 2002;136:270-9.
22. Stockley RA, Luisetti M, Miravitlles M, Piituilanen E, Fernandez P, AIR group. Ongoing research in Europe: Alpha One International Registry (AIR) objectives and development. Eur Respir J 2007;29:582-6.
23. 1-antitrypsin deficiency identifies 2 previously unidentified Null alleles. Clin Chem 2008;54:101-7.
24. 1-antitrypsin deficiency. Transl Res 2007;150:267-74.
25. Travis J, Salvesen GS. Human plasma proteinase inhibitors. Annu Rev Biochem 1983;52:655-709.
26. Pinto-Plata VM, Mullerova H, Toso JF, Feudo-Tepie M, Soriano JB, Vessey RS, Celli BR. C-reactive protein in patients with COPD, control smokers, and non-smokers. Thorax 2006;61:23-8.
27. Dahl M, Vestbo J, Lange P, Bojesen SE, Tybjaerg-Hensen A, Nordestgaard BG. C-reactive protein as predictor of prognosis in chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2007;175:250-5.
28. 1-antitrypsin deficiency. Adv Hum Genet 1981;11:1-62.
29. 1- antitrypsin deficiency. Am J Med 1988;84(Suppl 6A):13-31.
30. 1-antitrypsin phenotypes. Chest 1991;100:703-8.
31. 1- antitrypsin concentration. Am Rev Respir Dis 1975;111:97-100.
32. 1 antitrypsin deficiency. Ann Behav Med 2007;33:22-8.