Expressive

rs112401627 - TERT - MIR4457

Magnitude 2.8 · 2 studies on file

Reported associations

  • Whole exome sequencing analyses reveal novel genes in telomere length and their biomedical implications. - GeroScience (2024) · Liu WS, Wu BS, Yang L, Chen SD, Zhang YR, Deng YT, Wu XR, He XY, Yang J, Feng JF, Cheng W, Xu YM, Yu JT · PubMed 38837026

    Telomere length is a putative biomarker of aging and is associated with multiple age-related diseases. There are limited data on the landscape of rare genetic variations in telomere length. Here, we systematically characterize the rare variant associations with leukocyte telomere length (LTL) through exome-wide association study (ExWAS) among 390,231 individuals in the UK Biobank. We identified 18 robust rare-variant genes for LTL, most of which estimated effects on LTL were significant (> 0.2 standard deviation per allele). The biological functions of the rare-variant genes were associated with telomere maintenance and capping and several genes were specifically expressed in the testis. Three novel genes (ASXL1, CFAP58, and TET2) associated with LTL were identified. Phenotypic associati

  • Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk - Unknown journal (n.d.) · Unknown authors · PubMed 39366959

    ABSTRACT: Lung cancer remains the leading cause of cancer mortality, despite declining smoking rates. Previous lung cancer GWAS have identified numerous loci, but separating the genetic risks of lung cancer and smoking behavioral susceptibility remains challenging. Here, we perform multi-ancestry GWAS meta-analyses of lung cancer using the Million Veteran Program cohort (approximately 95% male cases) and a previous study of European-ancestry individuals, jointly comprising 42,102 cases and 181,270 controls, followed by replication in an independent cohort of 19,404 cases and 17,378 controls. We then carry out conditional meta-analyses on cigarettes per day and identify two novel, replicated loci, including the 19p13.11 pleiotropic cancer locus in squamous cell lung carcinoma. Overall, we

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.

Lifestyle context

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

Discuss with your doctor

  • genetic predisposition to lung cancer and surveillance strategy High

    Carriers of the rs112401627 risk allele have documented increased lung cancer susceptibility requiring tailored clinical surveillance decisions.

    schedule discussion with primary care or pulmonology about baseline assessment and screening intervals

Lifestyle

  • cigarette smoking High

    Smoking exposure compounds the genetic predisposition to lung cancer conferred by this variant.

    smoking cessation programs; minimize secondhand smoke exposure

Screening

  • enhanced lung cancer screening protocol High

    rs112401627 is associated with significantly increased lung cancer risk independent of smoking quantity, likely through TERT-related telomere pathway effects.

    discuss baseline CT or low-dose imaging with pulmonologist; determine screening interval