Expressive

rs11711710 - RUVBL1, EEFSEC

Magnitude 2.2 · 1 study on file

Reported associations

  • A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry - Unknown journal (n.d.) · Unknown authors · PubMed 26634245

    ABSTRACT: Background Pulmonary function decline is a major contributor to morbidity and mortality among smokers. Post bronchodilator FEV1 and FEV1/FVC ratio are considered the standard assessment of airflow obstruction. We performed a genome-wide association study (GWAS) in 9919 current and former smokers in the COPDGene study (6659 non-Hispanic Whites [NHW] and 3260 African Americans [AA]) to identify associations with spirometric measures (post-bronchodilator FEV1 and FEV1/FVC). We also conducted meta-analysis of FEV1 and FEV1/FVC GWAS in the COPDGene, ECLIPSE, and GenKOLS cohorts (total n = 13,532). Results Among NHW in the COPDGene cohort, both measures of pulmonary function were significantly associated with SNPs at the 15q25 locus [containing CHRNA3/5, AGPHD1, IREB2, CHRNB4] (low

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Lifestyle context

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

Lifestyle

  • chronic air pollution exposure Moderate

    T allele predisposes to lower FEV1; air pollution further impairs lung function and increases COPD risk

  • smoking Moderate

    T allele reduces FEV1; tobacco smoke causes additional FEV1 decline and increases respiratory disease risk

Screening

  • baseline pulmonary function testing Moderate

    T allele associated with reduced post-bronchodilator FEV1; baseline spirometry establishes personal lung function status

    Obtain spirometry with bronchodilator response testing

  • periodic pulmonary function decline Moderate

    Carriers of T allele have baseline lower FEV1; serial PFT can detect accelerated decline indicating obstructive lung disease

    Repeat spirometry every 1-2 years or if respiratory symptoms emerge