rs111646341 - LSAMP
Magnitude 4.5 · 1 study on file
Reported associations
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A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes. - American journal of respiratory and critical care medicine (2015) · Cho MH, Castaldi PJ, Hersh CP, Hobbs BD, Barr RG, Tal-Singer R, Bakke P, Gulsvik A, San José Estépar R, Van Beek EJ, Coxson HO, Lynch DA, Washko GR, Laird NM, Crapo JD, Beaty TH, Silverman EK · PubMed 26030696
Chronic obstructive pulmonary disease (COPD) is defined by the presence of airflow limitation on spirometry, yet subjects with COPD can have marked differences in computed tomography imaging. These differences may be driven by genetic factors. We hypothesized that a genome-wide association study (GWAS) of quantitative imaging would identify loci not previously identified in analyses of COPD or spirometry. In addition, we sought to determine whether previously described genome-wide significant COPD and spirometric loci were associated with emphysema or airway phenotypes. To identify genetic determinants of quantitative imaging phenotypes. We performed a GWAS on two quantitative emphysema and two quantitative airway imaging phenotypes in the COPDGene (non-Hispanic white and African American)
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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emphysema genetic risk and screening plan Moderate
LSAMP variant associated with emphysema imaging phenotypes; clinician can integrate this with other risk factors
discuss family history, smoking history, occupational exposures, and screening needs
Lifestyle
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smoking and secondhand smoke exposure Moderate
smoking is primary emphysema risk factor; genetic predisposition amplifies this risk
complete avoidance; smoking cessation if applicable
Screening
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lung function testing (spirometry) Moderate
LSAMP variant associated with emphysema imaging phenotypes, warranting baseline assessment of lung function
baseline spirometry; repeat based on clinical judgment
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respiratory symptoms (cough, dyspnea, wheezing) Moderate
genetic association with emphysema imaging phenotypes warrants increased symptom awareness
report new or persistent respiratory symptoms to healthcare provider promptly