rs10929386 - LINC01804
Magnitude 2.2 · 2 studies on file
Reported associations
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Exploiting meta-analysis of genome-wide interaction with serum 25-hydroxyvitamin D to identify novel genetic loci associated with pulmonary function - Unknown journal (n.d.) · Unknown authors · PubMed 38484975
ABSTRACT: Background Higher 25-hydroxyvitamin D (25(OH)D) concentrations in serum has a positive association with pulmonary function. Investigating genome-wide interactions with 25(OH)D may reveal new biological insights into pulmonary function. Objectives We aimed to identify novel genetic variants associated with pulmonary function by accounting for 25(OH)D interactions. Methods We included 211,264 participants from the observational United Kingdom Biobank study with pulmonary function tests (PFTs), genome-wide genotypes, and 25(OH)D concentrations from 4 ancestral backgrounds-European, African, East Asian, and South Asian. Among PFTs, we focused on forced expiratory volume in the first second (FEV1) and forced vital capacity (FVC) because both were previously associated with 25(OH)D.
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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.
Bloodwork
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serum 25-hydroxyvitamin D Moderate
This variant's effect on lung function (FEV1) depends on vitamin D status, suggesting vitamin D optimization may help respiratory outcomes.
annual testing, maintain 30-50 ng/mL
Screening
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baseline spirometry for lung function Moderate
This variant increases COPD risk with an effect size of 1.06 per C allele.
baseline FEV1/FVC testing before age 45