The SERPINE2 gene is associated with chronic obstructive pulmonary disease in two large populations
Guohua Zhu1, Liling Warren, Jennifer Aponte
1GlaxoSmithKline R&D, 5 Moore Drive, Research Triangle Park, NC 27709, USA.
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
Conclusions:
These data provide further support for SERPINE2 as a COPD susceptibility gene.
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