Expressive

rs11711142 - CACNA1D

Magnitude 4.5 · 1 study on file

Reported associations

  • Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk - Unknown journal (n.d.) · Unknown authors · PubMed 36914875

    ABSTRACT: Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 588,452 participants, we identified 1,020 independent association signals implicating 559 genes supported by ≥2 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups. We undertook phenome-wide association studies for selected associated variants as well as trait and pathway-specific genetic risk scores to infer possible consequences of interve

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Lifestyle context

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

Discuss with your doctor

  • genetic finding and respiratory health strategy Moderate

    Doctor can integrate this finding with personal and family respiratory history to optimize screening and prevention

    Share this genetic result during next physician visit; ask about appropriate spirometry timing

Exercise

  • aerobic exercise for respiratory health Moderate

    CACNA1D risk allele associated with reduced baseline lung function (FEV1/FVC); regular aerobic exercise improves respiratory capacity

    150 minutes moderate aerobic activity per week, such as walking, cycling, or swimming

Lifestyle

  • respiratory irritants and air pollution Moderate

    Those with reduced baseline lung function may be more susceptible to respiratory irritant effects and pollution-related decline

    Limit exposure to smoke, industrial pollutants, and heavily polluted areas; check air quality before outdoor activities

Screening

  • spirometry testing for lung function Moderate

    CACNA1D risk allele associated with reduced FEV1/FVC ratio; regular testing enables early detection of respiratory decline

    Baseline spirometry at age 40-45, or earlier if symptomatic; repeat every 3-5 years