title: The SERPINE2 gene is associated with chronic obstructive pulmonary disease in two large populations.
abstract: BACKGROUND
  Chronic obstructive pulmonary disease (COPD) is a complex disease influenced by multiple genes and environmental factors. A region on chromosome 2q has been shown to be linked to COPD. A positional candidate gene from the chromosome 2q region SERPINE2 (Serpin peptidase inhibitor, clade E [nexin, plasminogen activator inhibitor type 1], member 2), was previously evaluated as a susceptibility gene for COPD in two association studies, but the results were contradictory.
  
  
  OBJECTIVE
  To identify the relationship between SERPINE2 polymorphisms and COPD-related phenotypes using family-based and case-control association studies.
  
  
  METHODS
  In the present study, we genotyped 25 single nucleotide polymorphisms (SNPs) from SERPINE2 and analyzed qualitative and quantitative COPD phenotypes in 635 pedigrees with 1,910 individuals and an independent case-control population that included 973 COPD cases and 956 control subjects. The family data were analyzed using family-based association tests. The case-control data were analyzed using logistic regression and linear models.
  
  
  RESULTS
  Six SNPs demonstrated significant associations with COPD phenotypes in the family-based association analysis (0.0016<or=p<or=0.042). Five of these SNPs demonstrated replicated associations in the case-control analysis (0.021<or=p<or=0.031). In addition, the results of haplotype analyses supported the results from single SNP analyses.
  
  
  CONCLUSIONS
  These data provide further support for SERPINE2 as a COPD susceptibility gene.
authors: GlaxoSmithKline R&D, 5 Moore Drive, Research Triangle Park, NC 27709, USA.
authors: Guohua
authors: G
authors: Zhu
authors: Liling
authors: L
authors: Warren
authors: Jennifer
authors: J
authors: Aponte
authors: Amund
authors: A
authors: Gulsvik
authors: Per
authors: P
authors: Bakke
authors: Wayne H
authors: WH
authors: Anderson
authors: David A
authors: DA
authors: Lomas
authors: Edwin K
authors: EK
authors: Silverman
authors: Sreekumar G
authors: SG
authors: Pillai
mesh_terms: D000368:Aged; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D016022:Case-Control Studies; D030541:Databases, Genetic; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D058255:Protease Nexins; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*; D058258:Serpin E2
chemical_list: D016564:Amyloid beta-Protein Precursor; D058255:Protease Nexins; D011956:Receptors, Cell Surface; C545486:SERPINE2 protein, human; D058258:Serpin E2