Association of SERPINE2 with asthma
Blanca E Himes1, Barbara Klanderman2, John Ziniti2
1Channing Laboratory, Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Children's Hospital Informatics Program, Boston, MA.
Chest
|March 26, 2011
Summary
The SERPINE2 gene shows weak associations with asthma and related traits, supporting its potential role in the Dutch hypothesis linking asthma and COPD. Further research is needed to confirm SERPINE2
Area of Science:
- Genetics
- Pulmonology
- Epidemiology
Background:
- The Dutch hypothesis posits shared genetic factors between asthma and COPD.
- The SERPINE2 gene has prior associations with COPD.
- This study investigates SERPINE2's role in asthma and associated phenotypes.
Purpose of the Study:
- To determine if SERPINE2 gene single-nucleotide polymorphisms (SNPs) are associated with asthma.
- To explore the association of SERPINE2 SNPs with asthma-related phenotypes.
- To evaluate SERPINE2 as a candidate gene for the Dutch hypothesis.
Main Methods:
- Association analysis of 39 SERPINE2 SNPs with asthma phenotypes in 655 parent-child trios (Childhood Asthma Management Program - CAMP).
- Case-control study of 19 SERPINE2 SNPs for asthma association in 359 CAMP subjects and 846 controls.
- Replication analysis in independent populations and comparison with expression quantitative trait loci (eQTLs).
Main Results:
- Two of 39 SERPINE2 SNPs showed nominally significant associations with asthma phenotypes in CAMP, with one replicating in an independent cohort.
- Six of 19 SERPINE2 SNPs were nominally associated with asthma in CAMP/Illumina, but none replicated.
- Five SNPs associated with asthma and one with FEV1 in CAMP were strongly correlated with SERPINE2 expression; five SNPs linked to both asthma and COPD phenotypes.
Conclusions:
- Results provide weak support for SERPINE2 as a candidate gene in the Dutch hypothesis.
- Nominally significant associations were observed for asthma and related traits.
- Further investigation is required to confirm SERPINE2's role in asthma and COPD pathogenesis.
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