SERPINA1 PiZ and PiS heterozygotes and lung function decline in the SAPALDIA cohort

PLoS ONE

Volumn 7, Issue 8, 2012, Pages

  Thun, Gian Andri ^a,b   Ferrarotti, Ilaria ^c   Imboden, Medea ^a,b   Rochat, Thierry ^d   Gerbase, Margaret ^d   Kronenberg, Florian ^e   Bridevaux, Pierre Olivier ^d   Zemp, Elisabeth ^a,b   Zorzetto, Michele ^c   Ottaviani, Stefania ^c   Russi, Erich W ^f   Luisetti, Maurizio ^c   Probst Hensch, Nicole M ^a,b  

^a SWISS TROPICAL AND PUBLIC HEALTH INSTITUTE   (Switzerland)

^b UNIVERSITY OF BASEL   (Switzerland)

^c UNIVERSITY OF PAVIA   (Italy)

^d GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^e INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^f UNIVERSITY HOSPITAL ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

C REACTIVE PROTEIN;

ADULT; AIRWAY OBSTRUCTION; ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; DISEASE SEVERITY; EXPIRATORY RESERVE VOLUME; FEMALE; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HETEROZYGOSITY; HUMAN; LUNG FUNCTION; MAJOR CLINICAL STUDY; MALE; MUTATOR GENE; OBESITY; SERPINA1 GENE; SMOKING HABIT; SPIROMETRY;

ADOLESCENT; ADULT; AIR POLLUTION; AIRWAY OBSTRUCTION; ALLELES; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; COHORT STUDIES; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HEART DISEASES; HETEROZYGOTE; HUMANS; LONGITUDINAL STUDIES; LUNG; MALE; MIDDLE AGED; PROTEASE INHIBITORS; PROTEOLYSIS; REPRODUCIBILITY OF RESULTS; SPIROMETRY; YOUNG ADULT;

EID: 84865057815     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0042728     Document Type: Article

References (48)

1. Hall IP, Lomas DA, (2010) The genetics of obstructive lung disease: big is beautiful. Thorax 65: 760-761.
2. Janus ED, Phillips NT, Carrell RW, (1985) Smoking, lung function, and alpha 1-antitrypsin deficiency. Lancet 1: 152-154.
3. Luisetti M, Seersholm N, (2004) Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency. Thorax 59: 164-169.
4. Ferrarotti I, Thun GA, Zorzetto M, Ottaviani S, Imboden M, et al. Serum levels and genotype distribution of alpha1-antitrypsin in the general population. Thorax(2012).
5. Dahl M, Hersh CP, Ly NP, Berkey CS, Silverman EK, et al. (2005) The protease inhibitor PI*S allele and COPD: a meta-analysis. Eur Respir J 26: 67-76.
6. Hersh CP, Dahl M, Ly NP, Berkey CS, Nordestgaard BG, et al. (2004) Chronic obstructive pulmonary disease in alpha1-antitrypsin PI MZ heterozygotes: a meta-analysis. Thorax 59: 843-849.
7. Dahl M, Tybjaerg-Hansen A, Lange P, Vestbo J, Nordestgaard BG, (2002) Change in lung function and morbidity from chronic obstructive pulmonary disease in alpha1-antitrypsin MZ heterozygotes: A longitudinal study of the general population. Ann Intern Med 136: 270-279.
8. Wadsworth ME, Vinall LE, Jones AL, Hardy RJ, Whitehouse DB, et al. (2004) Alpha1-antitrypsin as a risk for infant and adult respiratory outcomes in a national birth cohort. Am J Respir Cell Mol Biol 31: 559-564.
9. Silva GE, Sherrill DL, Guerra S, Barbee RA, (2003) A longitudinal study of alpha1-antitrypsin phenotypes and decline in FEV1 in a community population. Chest 123: 1435-1440.
10. Sandford AJ, Chagani T, Weir TD, Connett JE, Anthonisen NR, et al. (2001) Susceptibility genes for rapid decline of lung function in the lung health study. Am J Respir Crit Care Med 163: 469-473.
11. Johnson D, Travis J, (1979) The oxidative inactivation of human alpha-1-proteinase inhibitor. Further evidence for methionine at the reactive center. J Biol Chem 254: 4022-4026.
12. Alam S, Li Z, Janciauskiene S, Mahadeva R, (2011) Oxidation of Z alpha1-antitrypsin by cigarette smoke induces polymerization: a novel mechanism of early-onset emphysema. Am J Respir Cell Mol Biol 45: 261-269.
13. Gan WQ, Man SF, Senthilselvan A, Sin DD, (2004) Association between chronic obstructive pulmonary disease and systemic inflammation: a systematic review and a meta-analysis. Thorax 59: 574-580.
14. McKeever T, Saha S, Fogarty AW, (2011) The association between systemic inflammatory cellular levels and lung function: a population-based study. PLoS One 6: e21593.
15. Senn O, Russi EW, Schindler C, Imboden M, von Eckardstein A, et al. (2008) Circulating alpha1-antitrypsin in the general population: determinants and association with lung function. Respir Res 9: 35.
16. Vonk JM, Jongepier H, Panhuysen CI, Schouten JP, Bleecker ER, et al. (2003) Risk factors associated with the presence of irreversible airflow limitation and reduced transfer coefficient in patients with asthma after 26 years of follow up. Thorax 58: 322-327.
17. Eriksson S, Lindell SE, Wiberg R, (1985) Effects of smoking and intermediate alpha 1-antitrypsin deficiency (PiMZ) on lung function. Eur J Respir Dis 67: 279-285.
18. Senn O, Russi EW, Imboden M, Probst-Hensch NM, (2005) alpha1-Antitrypsin deficiency and lung disease: risk modification by occupational and environmental inhalants. Eur Respir J 26: 909-917.
19. von Ehrenstein OS, von Mutius E, Maier E, Hirsch T, Carr D, et al. (2002) Lung function of school children with low levels of alpha1-antitrypsin and tobacco smoke exposure. Eur Respir J 19: 1099-1106.
20. Banauch GI, Brantly M, Izbicki G, Hall C, Shanske A, et al. (2010) Accelerated spirometric decline in New York City firefighters with alpha-antitrypsin deficiency. Chest 138: 1116-1124.
21. Cho MH, Castaldi PJ, Wan ES, Siedlinski M, Hersh CP, et al. (2012) A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. Hum Mol Genet 21: 947-957.
22. Soler Artigas M, Loth DW, Wain LV, Gharib SA, Obeidat M, et al. (2011) Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nat Genet 43: 1082-1090.
23. Imboden M, Bouzigon E, Curjuric I, Ramasamy A, Kumar A, et al. (2012) Genome-wide association study of lung function decline in adults with and without asthma. J Allergy Clin Immunol 129: 1218-1228.
24. Obeidat M, Wain LV, Shrine N, Kalsheker N, Soler Artigas M, et al. (2011) A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample. PLoS One 6: e19382.
25. Mulgrew AT, Taggart CC, Lawless MW, Greene CM, Brantly ML, et al. (2004) Z alpha1-antitrypsin polymerizes in the lung and acts as a neutrophil chemoattractant. Chest 125: 1952-1957.
26. Malerba M, Ricciardolo F, Radaeli A, Torregiani C, Ceriani L, et al. (2006) Neutrophilic inflammation and IL-8 levels in induced sputum of alpha-1-antitrypsin PiMZ subjects. Thorax 61: 129-133.
27. Salome CM, King GG, Berend N, (2010) Physiology of obesity and effects on lung function. J Appl Physiol 108: 206-211.
28. Roytblat L, Rachinsky M, Fisher A, Greemberg L, Shapira Y, et al. (2000) Raised interleukin-6 levels in obese patients. Obes Res 8: 673-675.
29. Bullo M, Garcia-Lorda P, Megias I, Salas-Salvado J, (2003) Systemic inflammation, adipose tissue tumor necrosis factor, and leptin expression. Obes Res 11: 525-531.
30. Sunyer J, Pistelli R, Plana E, Andreani M, Baldari F, et al. (2008) Systemic inflammation, genetic susceptibility and lung function. Eur Respir J 32: 92-97.
31. Margretardottir OB, Thorleifsson SJ, Gudmundsson G, Olafsson I, Benediktsdottir B, et al. (2009) Hypertension, systemic inflammation and body weight in relation to lung function impairment-an epidemiological study. COPD 6: 250-255.
32. Bridevaux PO, Gerbase MW, Schindler C, Dietrich DF, Curjuric I, et al. (2009) Sex-specific effect of body weight gain on systemic inflammation in subjects with COPD: results from the SAPALDIA cohort study 2. Eur Respir J 34: 332-339.
33. Dahl M, Vestbo J, Zacho J, Lange P, Tybjaerg-Hansen A, et al. (2011) C reactive protein and chronic obstructive pulmonary disease: a Mendelian randomisation approach. Thorax 66: 197-204.
34. Cochrane GM, Prieto F, Hickey B, Benatar SR, Clark TJ, (1974) Early diagnosis of airways obstruction. Thorax 29: 389-393.
35. Simon MR, Chinchilli VM, Phillips BR, Sorkness CA, Lemanske RF Jr, et al. Forced expiratory flow between 25% and 75% of vital capacity and FEV1/forced vital capacity ratio in relation to clinical and physiological parameters in asthmatic children with normal FEV1 values. J Allergy Clin Immunol (2010) 126:527-534 e521-528.
36. Sorheim IC, Bakke P, Gulsvik A, Pillai SG, Johannessen A, et al. (2010) alpha-Antitrypsin protease inhibitor MZ heterozygosity is associated with airflow obstruction in two large cohorts. Chest 138: 1125-1132.
37. DeMeo DL, Carey VJ, Chapman HA, Reilly JJ, Ginns LC, et al. (2004) Familial aggregation of FEF(25-75) and FEF(25-75)/FVC in families with severe, early onset COPD. Thorax 59: 396-400.
38. Kabesch M, Hoefler C, Carr D, Leupold W, Weiland SK, et al. (2004) Glutathione S transferase deficiency and passive smoking increase childhood asthma. Thorax 59: 569-573.
39. Miller MR, Hankinson J, Brusasco V, Burgos F, Casaburi R, et al. (2005) Standardisation of spirometry. Eur Respir J 26: 319-338.
40. Downs SH, Schindler C, Liu LJ, Keidel D, Bayer-Oglesby L, et al. (2007) Reduced exposure to PM10 and attenuated age-related decline in lung function. N Engl J Med 357: 2338-2347.
41. Imboden M, Schwartz J, Schindler C, Curjuric I, Berger W, et al. (2009) Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect. Environ Health Perspect 117: 1420-1427.
42. Curjuric I, Imboden M, Schindler C, Downs SH, Hersberger M, et al. (2010) HMOX1 and GST variants modify attenuation of FEF25-75% decline due to PM10 reduction. Eur Respir J 35: 505-514.
43. Kunzli N, Kuna-Dibbert B, Keidel D, Keller R, Brandli O, et al. (2005) Longitudinal validity of spirometers-a challenge in longitudinal studies. Swiss Med Wkly 135: 503-508.
44. Probst-Hensch NM, Curjuric I, Pierre-Olivier B, Ackermann-Liebrich U, Bettschart RW, et al. (2010) Longitudinal change of prebronchodilator spirometric obstruction and health outcomes: results from the SAPALDIA cohort. Thorax 65: 150-156.
45. Thomason MJ, Strachan DP, (2000) Which spirometric indices best predict subsequent death from chronic obstructive pulmonary disease? Thorax 55: 785-788.
46. Martin BW, Ackermann-Liebrich U, Leuenberger P, Kunzli N, Stutz EZ, et al. (1997) SAPALDIA: methods and participation in the cross-sectional part of the Swiss Study on Air Pollution and Lung Diseases in Adults. Soz Praventivmed 42: 67-84.
47. Ackermann-Liebrich U, Kuna-Dibbert B, Probst-Hensch NM, Schindler C, Felber Dietrich D, et al. (2005) 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 50: 245-263.
48. Zorzetto M, Russi E, Senn O, Imboden M, Ferrarotti I, et al. (2008) SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clin Chem 54: 1331-1338.