Expressive

rs11191865 - STN1

Magnitude 2.8 · 2 studies on file

Reported associations

  • Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis - Unknown journal (n.d.) · Unknown authors · PubMed 23583980

    ABSTRACT: We performed a genome-wide association study in non-Hispanic white subjects with fibrotic idiopathic interstitial pneumonias (N=1616) and controls (N=4683); replication was assessed in 876 cases and 1890 controls. We confirmed association with TERT and MUC5B on chromosomes 5p15 and 11p15, respectively, the chromosome 3q26 region near TERC, and identified 7 novel loci (PMeta = 2.4×10−8 to PMeta = 1.1×10−19). The novel loci include FAM13A (4q22), DSP (6p24), OBFC1 (10q24), ATP11A (13q34), DPP9 (19p13), and chromosomal regions 7q22 and 15q14-15. Our results demonstrate that genes involved in host defense, cell-cell adhesion, and DNA repair contribute to the risk of fibrotic IIP. FULL TEXT: [INTRO] The idiopathic interstitial pneumonias (IIPs) represent a group of lung disease

  • Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis - Unknown journal (n.d.) · Unknown authors · PubMed 31710517

    ABSTRACT: Rationale Idiopathic pulmonary fibrosis (IPF) is a complex lung disease characterized by scarring of the lung that is believed to result from an atypical response to injury of the epithelium. Genome-wide association studies have reported signals of association implicating multiple pathways including host defense, telomere maintenance, signaling, and cell-cell adhesion. Objectives To improve our understanding of factors that increase IPF susceptibility by identifying previously unreported genetic associations. Methods We conducted genome-wide analyses across three independent studies and meta-analyzed these results to generate the largest genome-wide association study of IPF to date (2,668 IPF cases and 8,591 controls). We performed replication in two independent studies (1,456

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Lifestyle context

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

Lifestyle

  • active and passive cigarette smoke exposure Moderate

    Cigarette smoke is an established environmental risk factor for ILD; genetic variants impairing host defense increase susceptibility to cumulative lung injury

    Do not smoke; minimize passive smoke; maintain smoke-free home and work

  • occupational and environmental lung irritants Moderate

    Inhaled particles (asbestos, silica, dust) cause cumulative lung injury; OBFC1 variants reducing telomere maintenance lower cellular stress tolerance

    Use respiratory protection for occupational exposure; avoid high-dust hobbies; consider occupational counseling

Screening

  • baseline PFT evaluation and pulmonary symptom monitoring Moderate

    rs11191865 increases genetic risk for interstitial lung disease via impaired telomere biology and host defense; early detection enables better management

    Discuss baseline PFTs and periodic monitoring for cough, dyspnea, or reduced exercise tolerance