Expressive

rs10801559 - CFH

Magnitude 2.2 · 2 studies on file

Reported associations

  • Identifying causal serum protein-cardiometabolic trait relationships using whole genome sequencing - Unknown journal (n.d.) · Unknown authors · PubMed 36349687

    ABSTRACT: Abstract Cardiometabolic diseases, such as type 2 diabetes and cardiovascular disease, have a high public health burden. Understanding the genetically determined regulation of proteins that are dysregulated in disease can help to dissect the complex biology underpinning them. Here, we perform a protein quantitative trait locus (pQTL) analysis of 248 serum proteins relevant to cardiometabolic processes in 2893 individuals. Meta-analyzing whole-genome sequencing (WGS) data from two Greek cohorts, MANOLIS (n = 1356; 22.5× WGS) and Pomak (n = 1537; 18.4× WGS), we detect 301 independently associated pQTL variants for 170 proteins, including 12 rare variants (minor allele frequency < 1%). We additionally find 15 pQTL variants that are rare in non-Finnish European populati

  • 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 predisposition and baseline pulmonary assessment Moderate

    SNP-driven reduction in FEV1/FVC warrants early clinical assessment to establish baseline and monitor progression

Exercise

  • Regular aerobic exercise to maintain respiratory fitness Moderate

    Exercise strengthens respiratory muscles and improves oxygen utilization, offsetting genetic predisposition to lower FEV1/FVC

    150 minutes moderate-intensity aerobic activity weekly

Lifestyle

  • Active smoking and secondhand smoke exposure Moderate

    Genetic predisposition to lower baseline lung function amplifies COPD risk from smoking-induced lung damage

  • High occupational or environmental air pollution exposure Moderate

    Lower baseline lung function increases susceptibility to oxidative stress from air pollutants and occupational exposures

    Check air quality index; consider occupational hazard assessment if exposed

Screening

  • Post-bronchodilator spirometry for COPD assessment Moderate

    rs10801559-A allele is associated with lower post-bronchodilator FEV1/FVC ratio, a diagnostic criterion for COPD

    Baseline spirometry; repeat as clinically indicated