Expressive

rs11579382 - CHRM3, CHRM3-AS2

Magnitude 2.2 · 1 study on file

Reported associations

  • Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell type and phenotype associations - Unknown journal (n.d.) · Unknown authors · PubMed 30804561

    ABSTRACT: Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide novel insights into disease pathogenesis. We performed a genome-wide association study in 35,735 cases and 222,076 controls from the UK Biobank and additional studies from the International COPD Genetics Consortium. We identified 82 loci with P-value < 5 × 10−8; 47 were previously described in association with either COPD or population-based lung function. Of the remaining 35 novel loci, 13 were associated with lung function in 79,055 individuals from the SpiroMeta consortium. Using gene expression and regulation data, we identified enrichment for loci in lung tissue, smooth muscle and several lung cell types. We found 14 COPD loci shared with either

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Lifestyle context

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

Exercise

  • regular aerobic exercise Moderate

    Aerobic activity strengthens respiratory muscles and improves lung function; reduces COPD progression

    150 minutes moderate-intensity aerobic activity per week

Lifestyle

  • air quality and environmental exposures Moderate

    COPD-risk variants increase susceptibility to occupational and environmental irritants

    check air quality daily; avoid high-pollution days; use air filtration for occupational exposure

  • cigarette smoking Moderate

    CHRM3 encodes a muscarinic receptor involved in airway function; variants increase COPD risk and susceptibility to smoking-related lung damage

    cease if current smoker; continue avoidance if never smoked

Screening

  • baseline spirometry and COPD assessment Moderate

    Genetic risk variant increases COPD probability; early detection enables timely intervention

    baseline testing by age 40, then reassess per clinical guidelines