Expressive

rs11727735 - GSTCD, INTS12

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis - Unknown journal (n.d.) · Unknown authors · PubMed 28166215

    [INTRO] Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide. We performed a genetic association in 15,256 cases and 47,936 controls, with replication of select top results (P < 5×10−6) in 9,498 cases and 9,748 controls. In the combined meta-analysis, we identified 22 loci at genome-wide significance, including 13 new associations with COPD. Nine of these 13 loci have been associated with lung function in general population samples; however, 4 (EEFSEC, DSP, MTCL1, and SFTPD) are novel. We noted 2 loci shared with pulmonary fibrosis (FAM13A and DSP) but with opposite risk alleles for COPD. None of our loci overlapped with genome-wide associations for asthma; however, one locus has been implicated in the joint susceptibility to asthma and obesity. We also

  • 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.

Discuss with your doctor

  • Genetic COPD susceptibility with physician Moderate

    Genetic risk factors inform clinical assessment of respiratory health, prevention strategies, and screening decisions.

    Inform physician of this COPD-associated variant during respiratory health or preventive care visits.

Lifestyle

  • Cigarette smoking High

    Smoking is the primary COPD risk factor; genetic predisposition substantially amplifies smoking-associated disease risk.

    Avoid smoking; if currently smoking, seek professional cessation support.

Screening

  • Spirometry for COPD screening Moderate

    Variant increases COPD susceptibility by approximately 27%; baseline lung function assessment enables early detection.

    Discuss COPD screening with physician, particularly if age over 40 or environmental exposure present.