rs11234554 - PICALM - RNU6-560P
Magnitude 2.2 · 1 study on file
Reported associations
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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.
Lifestyle
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reduce air pollution and occupational chemical exposure Moderate
Air pollution and occupational exposures are major environmental triggers for COPD; genetic risk variants increase susceptibility to these exposures.
Monitor local air quality index; consider HEPA filtration if living in high-pollution area; discuss occupational exposure risks with employer.
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tobacco smoking Moderate
Smoking is the primary environmental risk factor for COPD; this variant increases genetic susceptibility to COPD, making avoidance critical.
Complete cessation if currently using; avoid secondhand smoke exposure.
Screening
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pulmonary function testing for early COPD detection Moderate
Increased genetic predisposition to COPD warrants proactive monitoring for early signs of airway obstruction.
Consider spirometry screening at baseline and periodic evaluation, especially if symptoms develop or high-risk exposures occur.