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Publication Title

Scientific Reports


Geisel School of Medicine


mRNA splicing is an important mechanism to regulate mRNA expression. Abnormal regulation of thisprocess may lead to lung cancer. Here, we investigated the associations of 11,966 single-nucleotide polymorphisms (SNPs) in 206 mRNA splicing-related genes with lung cancer risk by using the summarydata from six published genome-wide association studies (GWASs) of Transdisciplinary Research in Cancerof the Lung (TRICL) (12,160 cases and 16,838 controls) and another two lung cancer GWASs of Harvard University (984 cases and 970 controls) and deCODE (1,319 cases and 26,380 controls). We found that a total of 12 significant SNPs with false discovery rate (FDR) ≤0.05 were mapped to one novel gene PRPF6and two previously reported genes (DHX16 and LSM2) that were also confirmed in this study. The sixnovel SNPs in PRPF6 were in high linkage disequilibrium and associated with PRPF6 mRNA expression inlymphoblastoid cells from 373 Europeans in the 1000 Genomes Project. Taken together, our studies shednew light on the role of mRNA splicing genes in the development of lung cancer.



Original Citation

Pan, Y., Liu, H., Wang, Y. et al. Associations between genetic variants in mRNA splicing-related genes and risk of lung cancer: a pathway-based analysis from published GWASs. Sci Rep 7, 44634 (2017).