rs1233557 - SHH
Magnitude 4.5 · 1 study on file
Reported associations
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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
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Baseline pulmonary function testing Moderate
rs1233557-A associated with reduced FEV1/FVC ratio
Screening
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Respiratory symptoms and exercise tolerance Moderate
rs1233557-A associated with lower lung function warrants vigilance
Track cough persistence, shortness of breath, reduced exercise capacity