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DSP variants may be associated with longitudinal change in quantitative emphysema
Woori Kim1,2, Michael H Cho2,3, Phuwanat Sakornsakolpat2,4
1Department of Epidemiology, Johns Hopkins School of Public Health, 615 N. Wolfe Street, Baltimore, MD, 21205, USA.
Respiratory Research
|July 21, 2019
Summary
Genetic variants in the DSP gene may influence how emphysema progresses over time in individuals with Chronic Obstructive Pulmonary Disease (COPD). Further research into DSP could reveal more about emphysema and COPD disease progression.
Area of Science:
- Pulmonary Medicine
- Genetics
- Radiology
Background:
- Emphysema, a lung-damaging condition, is a major factor in Chronic Obstructive Pulmonary Disease (COPD), increasing illness and death.
- While genetic links to current emphysema levels are known, those affecting its progression are not well understood.
- This study investigates genetic associations with the changes in quantitative emphysema over time.
Purpose of the Study:
- To identify genetic variants associated with the longitudinal progression of quantitative emphysema.
- To analyze genetic determinants of annual changes in emphysema severity measured by CT scans.
Main Methods:
- Utilized data from two cohorts (COPDGene and ECLIPSE) comprising current and former smokers.
- Calculated annual changes in emphysema measures: percent low attenuation area (%LAA-950) and adjusted lung density (ALD) from CT scans.
- Conducted genome-wide association studies (GWAS) and analyzed previously identified variants and a polygenic risk score.
Main Results:
- No variants reached genome-wide significance in the GWAS.
- The rs2076295 variant in the DSP gene was associated with changes in %LAA-950 and ALD.
- A polygenic risk score based on lung function correlated with annual %LAA-950 changes and baseline emphysema measures.
Conclusions:
- DSP gene variants show potential association with the progression of quantitative emphysema.
- Further investigation of the DSP gene is warranted to understand emphysema and COPD disease progression better.
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