rs11465228 - ADAM19

Magnitude 2.2 · 2 studies 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

  • Large-scale genome-wide association study of coronary artery disease in genetically diverse populations - Unknown journal (n.d.) · Unknown authors · PubMed 35915156

    ABSTRACT: We report a genome-wide association study (GWAS) of coronary artery disease (CAD) incorporating nearly a quarter million cases, in which existing studies are integrated with data from cohorts of White, Black, and Hispanic individuals from the Million Veteran Program. We document near equivalent heritability of CAD across multiple ancestral groups, identify 95 novel loci, including the first nine to be identified on the X-chromosome, detect the first eight genome-wide significant loci among Blacks and Hispanics, and demonstrate that two common haplotypes at the 9p21 locus are responsible for risk stratification in all populations except those of African origin, where these haplotypes are virtually absent. Moreover, in the largest GWAS for angiographically derived coronary atherosc


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Lifestyle context

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

Lifestyle

  • Active and passive smoking exposure Moderate

    T-allele carriers have 1.14-fold increased genetic risk for COPD; smoking is the primary modifiable risk factor

Screening

  • COPD screening via spirometry Moderate

    Genetic predisposition indicated by this variant warrants proactive screening for early COPD detection and intervention

    Consider baseline spirometry at age 40 or earlier if occupational/environmental exposure or respiratory symptoms