Identification of risk loci and a polygenic risk score for lung cancer: A large-scale prospective cohort study in Chinese populations

The Lancet Respiratory MedicineDai J, Lv J, Zhu M, et al. | September 30, 2019

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Researchers developed a polygenic risk score (PRS), by discovering novel loci related to non-small-cell lung cancer (NSCLC) risk, and assessed its usefulness and efficacy in the prediction of lung cancer risk in Chinese populations. From the Nanjing Medical University Global Screening Array Project, 19,546 samples from Chinese NSCLC cases and controls were newly genotyped. They also undertook a meta-analysis of genome-wide association studies (GWASs) of 27,120 people with NSCLC and 27,355 without NSCLC. Taking into account all reported single-nucleotide polymorphisms related to lung cancer risk at genome-wide significance level, they developed a PRS for Chinese populations. They found significant link of 19 susceptibility loci with NSCLC risk at p ≤ 5·0 × 10 −8, including 6 new loci. For the first time ever, GWAS-derived PRS was shown to be serving effectively for differentiating subpopulations at high risk of lung cancer, who might derive advantage from a practically feasible PRS-based lung cancer screening programme for precision prevention in Chinese populations.

Read the full article on The Lancet Respiratory Medicine

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