Expressive

rs10429489 - RN7SL151P - MTAP

Magnitude 2.2 · 2 studies on file

Reported associations

  • Risk loci identification and polygenic risk score in prediction of lung cancer: a large-scale prospective cohort study in Chinese - Unknown journal (n.d.) · Unknown authors · PubMed 31326317

    ABSTRACT: Summary Background Genetic variation plays an important role in the development of non-small cell lung cancer (NSCLC). However, major genetic factors for lung cancer have not been fully identified, especially in Chinese populations, which deters us from using a polygenic risk score (PRS) to identify sub-populations at high-risk of lung cancer for prevention. Methods To systematically identify genetic variants for NSCLC risk, we newly genotyped 19,546 samples and conducted a meta-analysis of genome-wide association studies (GWASs) of 27,120 cases and 27,355 controls. We then built a PRS for Chinese populations and evaluated its utility and effectiveness in predicting high-risk populations of lung cancer in an independent prospective cohort of 95,408 individuals from China Kadoorie

  • Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma - Unknown journal (n.d.) · Unknown authors · PubMed 32889700

    ABSTRACT: Although genome-wide association studies have identified more than eighty genetic variants associated with non-small cell lung cancer (NSCLC) risk, biological mechanisms of these variants remain largely unknown. By integrating a large-scale genotype data of 15,581 lung adenocarcinoma (AD) cases, 8,350 squamous cell carcinoma (SqCC) cases, and 27,355 controls, as well as multiple transcriptome and epigenomic databases, we conducted histology-specific meta-analyses and functional annotations of both reported and novel susceptibility variants. We identified 3,064 credible risk variants for NSCLC, which were overrepresented in enhancer-like and promoter-like histone modification peaks as well as DNase I hypersensitive sites. Transcription factor enrichment analysis revealed that USF1

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