rs1105820 - CBX8
Magnitude 4.5 · 2 studies 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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Genetic diversity fuels gene discovery for tobacco and alcohol use - Unknown journal (n.d.) · Unknown authors · PubMed 36477530
ABSTRACT: Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury. These substances are used across the globe, yet genome-wide association studies have focused largely on individuals of European ancestries. Here we leveraged global genetic diversity across 3.4 million individuals from four major clines of global ancestry (approximately 21% non-European) to power the discovery and fine-mapping of genomic loci associated with tobacco and alcohol use, to inform function of these loci via ancestry-aware transcriptome-wide association studies, and to evaluate the genetic architecture and predictive power of polygenic risk within and across populations. We found that increases in s
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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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Genetic predisposition to smoking initiation Moderate
rs1105820 C allele shows strong association with smoking initiation (p=4e-22, n=3.3M); identifying carriers may inform behavioral prevention
Screening
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Baseline spirometry for lung function Moderate
rs1105820 is significantly associated with FEV1 variation (p=4e-9, n=588k); baseline measurement enables risk assessment
Consider spirometry screening once in adulthood if not recently performed