Expressive

rs10172023 - NEB

Magnitude 4.5 · 1 study on file

Reported associations

  • Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk - Unknown journal (n.d.) · Unknown authors · PubMed 36914875

    ABSTRACT: Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 588,452 participants, we identified 1,020 independent association signals implicating 559 genes supported by ≥2 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups. We undertook phenome-wide association studies for selected associated variants as well as trait and pathway-specific genetic risk scores to infer possible consequences of interve

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Lifestyle context

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

Discuss with your doctor

  • Nemaline myopathy 2 carrier status and management High

    rs10172023 T allele is ClinVar-Pathogenic for NEB-related nemaline myopathy 2; carrier status and disease risk require clinical assessment.

    Refer for genetic counseling and neuromuscular evaluation.

    • ClinVar:1404461

Lifestyle

  • Smoking and air pollution exposure High

    Genetic predisposition to altered lung function increases risk from environmental lung insults; smoking and air pollution further compromise respiratory capacity.

    Complete smoking cessation; minimize air pollution and secondhand smoke exposure.

    • GWAS_CATALOG:36914875

Screening

  • Lung function (FEV1/FVC ratio) via spirometry High

    rs10172023 C allele shows highly significant genetic association with lung function in large cohort (n=588452, p=4e-9); baseline and serial measurement recommended.

    Spirometry at baseline age 40+; repeat every 2-3 years.

    • GWAS_CATALOG:36914875