Title: The <i>SERPINE2</i> Gene Is Associated with Chronic Obstructive Pulmonary Disease in Two Large Populations
Abstract: Rationale: 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.Objectives: 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.Measurements and Main Results: Six SNPs demonstrated significant associations with COPD phenotypes in the family-based association analysis (0.0016 ⩽ p ⩽ 0.042). Five of these SNPs demonstrated replicated associations in the case-control analysis (0.021 ⩽ p ⩽ 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.
Publication Year: 2007
Publication Date: 2007-07-15
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
Access and Citation
Cited By Count: 135
AI Researcher Chatbot
Get quick answers to your questions about the article from our AI researcher chatbot