Expressive

rs1012036 - RN7SL292P - SGO1P2

Magnitude 2.8 · 1 study on file

Reported associations

  • Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema. - American journal of respiratory and critical care medicine (2011) · Kong X, Cho MH, Anderson W, Coxson HO, Muller N, Washko G, Hoffman EA, Bakke P, Gulsvik A, Lomas DA, Silverman EK, Pillai SG · PubMed 20709820

    chronic obstructive pulmonary disease (COPD), characterized by airflow limitation, is a disorder with high phenotypic and genetic heterogeneity. Pulmonary emphysema is a major but variable component of COPD; familial data suggest that different components of COPD, such as emphysema, may be influenced by specific genetic factors. to identify genetic determinants of emphysema assessed through high-resolution chest computed tomography in individuals with COPD. we performed a genome-wide association study (GWAS) of emphysema determined from chest computed tomography scans with a total of 2,380 individuals with COPD in three independent cohorts of white individuals from (1) a cohort from Bergen, Norway, (2) the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPS

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • genetic risk for emphysema and prevention strategies Moderate

    Genetic predisposition identified; clinician discussion can guide personalized prevention and monitoring

    Discuss this genetic finding, family history of COPD/emphysema, and smoking history at next clinical visit

Lifestyle

  • smoking Moderate

    This SNP is associated with emphysema-related traits; smoking is the primary modifiable risk factor for emphysema development

    If currently smoking, pursue evidence-based cessation strategies; avoid secondhand smoke exposure

Screening

  • baseline spirometry and pulmonary function testing Moderate

    Genetic predisposition to emphysema-related traits warrants baseline assessment to identify early changes

    Discuss with clinician about baseline spirometry; may warrant age-appropriate repeat testing if risk factors present