The SERPINE2 gene is associated with chronic obstructive pulmonary disease in two large populations

American Journal of Respiratory and Critical Care Medicine

Volumn 176, Issue 2, 2007, Pages 167-173

  Zhu, Guohua ^a   Warren, Liling ^a   Aponte, Jennifer ^a   Gulsvik, Amund ^b   Bakke, Per ^b   Anderson, Wayne H ^a   Lomas, David A ^c   Silverman, Edwin K ^d   Pillai, Sreekumar G ^a   Agusti, Alvar ^e   Calverley, Peter M A ^f   Donner, Claudio F ^g   Levy, Robert D ^h   Make, Barry J ⁱ   Paré, Peter D ^h   Rennard, Stephen I ^j   Vestbo, Jørgen ^k   Wouters, Emiel F M ^l  

^a GLAXOSMITHKLINE   (United States)

^b UNIVERSITY OF BERGEN   (Norway)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^f UNIVERSITY OF LIVERPOOL   (United Kingdom)

^g IRCCS   (Italy)

^h UNIVERSITY OF BRITISH COLUMBIA   (Canada)

ⁱ NATIONAL JEWISH MEDICAL AND RESEARCH CENTER   (United States)

^j UNIVERSITY OF NEBRASKA AT OMAHA   (United States)

^k HVIDOVRE HOSPITAL   (Denmark)

^l MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

Chronic obstructive pulmonary disease; Genetic association, SERPINE2; Replication

Indexed keywords

GENE PRODUCT; SERPIN PEPTIDASE INHIBITOR CLADE E NEXIN PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1 MEMBER 2; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CASE CONTROL STUDY; CHRONIC OBSTRUCTIVE LUNG DISEASE; CONTROLLED STUDY; DATA ANALYSIS; DISEASE ASSOCIATION; FAMILY; FEMALE; GENE REPLICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HUMAN; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL MODEL;

AGED; AMYLOID BETA-PROTEIN PRECURSOR; CASE-CONTROL STUDIES; DATABASES, GENETIC; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RECEPTORS, CELL SURFACE;

EID: 34447315555     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/rccm.200611-1723OC     Document Type: Article

References (32)

1. Hanrahan JP, Sherman CB, Bresnitz EA, Emmons KM, Mannino DM. Cigarette smoking and health. Am J Respir Crit Care Med 1996;153:861-865.
2. Redline S, Tishler PV, Rosner B, Lewitter FI, Vandenburgh M, Weiss ST. Speizer FEl. Genotypic and phenotypic similarities in pulmonary function among family members of adult monozygotic and dizygotic twins. Am J Epidemiol 1989;129:827-836.
3. Webster PM, Lorimer EG. man SF, Woolf CR, Zamel N. Pulmonary function in identical twins: comparison of nonsmokers and smokers. Am Rev Respir Dis 1979;119:223-228.
4. Kauffmann F, Tager IB, Munoz A, Speizer FE. Familial factors related to lung function in children aged 6-10 years: results from the PAARC epidemiologic study. Am J Epidemiol 1989;129:1289-1299.
5. Lebowitz MD, Knudson RJ, Burrows B. Family aggregation of pulmonary function measurements. Am Rev Respir Dis 1984;129:8-11.
6. Silverman EK, Mosley JD, Palmer LJ, Barth M, Senter JM, Brown A, Drazen JM, Kwiatkowski DJ, Chapman HA, Campbell EJ, et al. Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes. Hum Mol Genet 2002;11:623-632.
7. Silverman EK, Palmer LJ, Mosley JD, Barth M, Senter JM, Brown A, Drazen JM, Kwiatkowski DJ, Chapman HA, Campbell EJ, et al. Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease. Am J Hum Genet 2002;70:1229-1239.
8. Palmer LJ, Celedón JC, Chapman HA, Speizer FE, Weiss ST, Silverman EK. Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease. Hum Mol Genet 2003;12:1199-1210.
9. Malhotra A, Peiffer AP, Ryujin DT, Elsner T, Kanner RE, Leppert MF, Hasstedt SJ. Further evidence for the role of genes on chromosome 2 and chromosome 5 in the inheritance of pulmonary function. Am J Respir Crit Care Med 2003;168:556-561.
10. DeMeo DL, Mariani TJ, Lange C, Srisuma S, Litonjua AA, Celedon JC, Lake SL, Reilly JJ, Chapman HA, Mecham BH, et al. The SERPINE2 gene is associated with chronic obstructive pulmonary disease. Am J Hum Genet 2006;78:253-264.
11. Chappell S, Daly L, Morgan K, Baranes TG, Roca J, Rabinovich R, Millar A, Donnelly SC, Keatings V, MacNee W, et al. The SERPINE2 gene and chronic obstructive pulmonary disease [letter]. Am J Hum Genet 2006;79:184-186.
12. Devlin B, Bacanu S, Roeder K. Genomic control to the extreme. Nat Genet 2004;36:1129-1130.
13. Devlin B, Roeder K. Genomic control for association studies. Biometrics 1999;55:997-1004.
14. O'Connell JR, Weeks DE. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998;63:259-266.
15. Horvath S, Xu X, Laird NM. The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet 2001;9:301-306.
16. Lange C, DeMeo D, Silverman EK, Weiss ST, Laird NM. PBAT: tools for family-based association studies. Am J Hum Genet 2004;74:367-369.
17. Horvath S, Xu X, Lake SL, Silverman EK, Weiss ST, Laird NM. Family-based tests for associating haplotypes with general phenotype data: application to asthma genetics. Genet Epidemiol 2004;26:61-69.
18. Dudbridge F. Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 2003;25:115-121.
19. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 2002;70:425-434.
20. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-265.
21. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, et al. The structure of haplotype blocks in the human genome. Science 2002;296:2225-2229.
22. Carter RE, Cerosaletti KM, Burkin DJ, Fournier REK, Jones C, Greenberg BD, Citron BA, Festoff BW. The gene for the serpin thrombin inhibitor (P17), protease nexin 1, is located on human chromosome 2q33-q35 and on syntenic regions in the mouse and sheep genomes. Genomics 1995;27:196-199.
23. Mansuy IM, van der Putten H, Schmid P, Meins M, Botteri FM, Monard D. Variable and multiple expression of protease nexin-1 during mouse organogenesis and nervous system development. Development 1993;119:1119-1134.
24. Mbebi C, Hantaï D, Jandrot-Perrus M, Doyennette MA, Verdière-Sahuqué M. Protease nexin I expression is up-regulated in human skeletal muscle by injury-related factors. J Cell Physiol 1999;179:305-314.
25. Vaughan PJ, Cunningham DD. Regulation of protease nexin-1 synthesis and secretion in cultured brain cells by injury-related factors. J Biol Chem 1993;268:3720-3727.
26. Shapiro SD, Goldstein NM, Houghton AM, Kobayashi DK, Kelley D, Belaaouaj A. Neutrophil elastase contributes to cigarette smoke-induced emphysema in mice. Am J Pathol 2003;163:2329-2335.
27. Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 2003;33:177-182.
28. Silverman EK, Palmer LJ. Case-control association studies for the genetics of complex respiratory diseases. Am J Respir Cell Mol Biol 2000;22:645-648.
29. Joos L, Pare PD, Sandford AJ. Genetic risk factors for chronic obstructive pulmonary disease. Swiss Med Wkly 2002;132:27-37.
30. Roeder K, Bacanu SA, Sonpar V, Zhang X, Devlin B. Analysis of single-locus tests to detect gene/disease associations. Genet Epidemiol 2005;28:207-219.
31. Cousin E, Medcalf RL, Bergonzelli GE, Kruithof EK. Regulatory elements involved in constitutive and phorbol ester-inducible expression of the plasminogen activator inhibitor type 2 gene promoter. Nucleic Acids Res 1991;19:3881-3886.
32. Mahony D, Kalionis B, Antalis TM. Plasminogen activator inhibitor type-2 (PAI-2) gene transcription requires a novel NF-κB-like transcriptional regulatory motif. Eur J Biochem 1999;263:765-772.