PMID- 31641374 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20220410 IS - 1756-0381 (Print) IS - 1756-0381 (Electronic) IS - 1756-0381 (Linking) VI - 12 DP - 2019 TI - Integrative analysis of genetic and epigenetic profiling of lung squamous cell carcinoma (LSCC) patients to identify smoking level relevant biomarkers. PG - 18 LID - 10.1186/s13040-019-0207-y [doi] LID - 18 AB - BACKGROUND: Incidence and mortality of lung cancer have dramatically decreased during the last decades, yet still approximately 160,000 deaths per year occurred in United States. Smoking intensity, duration, starting age, as well as environmental cofactors including air-pollution, showed strong association with major types of lung cancer. Lung squamous cell carcinoma is a subtype of non-small cell lung cancer, which represents 25% of the cases. Thus, exploring the molecular pathogenic mechanisms of lung squamous cell carcinoma plays crucial roles in lung cancer clinical diagnosis and therapy. RESULTS: In this study, we performed integrative analyses on 299 comparative datasets of RNA-seq and methylation data, collected from 513 lung squamous cell carcinoma cases in The Cancer Genome Atlas. The data were divided into high and low smoking groups based on smoking intensity (Numbers of packs per year). We identified 1002 significantly up-regulated genes and 534 significantly down-regulated genes, and explored their cellular functions and signaling pathways by bioconductor packages GOseq and KEGG. Global methylation status was analyzed and visualized in circular plot by CIRCOS. RNA-and methylation data were correlatively analyzed, and 24 unique genes were identified, for further investigation of regional CpG sites' interactive patterns by bioconductor package coMET. AIRE, PENK, and SLC6A3 were the top 3 genes in the high and low smoking groups with significant differences. CONCLUSIONS: Gene functions and DNA methylation patterns of these 24 genes are important and useful in disclosing the differences of gene expression and methylation profiling caused by different smoking levels. CI - (c) The Author(s). 2019. FAU - Ma, Bidong AU - Ma B AD - Department of Medical Oncology, Zhe Jiang Chinese Medicine University affiliated Chinese Medicine Hospital, Wen Zhou, Zhe Jiang province People's Republic of China. FAU - Huang, Zhiyou AU - Huang Z AD - Department of Medical Oncology, Zhe Jiang Chinese Medicine University affiliated Chinese Medicine Hospital, Wen Zhou, Zhe Jiang province People's Republic of China. FAU - Wang, Qian AU - Wang Q AD - Tianjia Genomes Tech CO., LTD., No. 6 Longquan Road, Anhui Chaohu economic develop zone, Hefei, 238014 People's Republic of China. FAU - Zhang, Jizhou AU - Zhang J AD - Department of Medical Oncology, Zhe Jiang Chinese Medicine University affiliated Chinese Medicine Hospital, Wen Zhou, Zhe Jiang province People's Republic of China. FAU - Zhou, Bin AU - Zhou B AD - Department of Medical Oncology, Zhe Jiang Chinese Medicine University affiliated Chinese Medicine Hospital, Wen Zhou, Zhe Jiang province People's Republic of China. FAU - Wu, Jiaohong AU - Wu J AD - 3Department of Gynecology and Oncology, Wen Zhou Medical University affiliated People's Hospital, Wen Zhou, Zhe Jiang province People's Republic of China. ISNI: 0000 0001 0348 3990. GRID: grid.268099.c LA - eng PT - Journal Article DEP - 20191021 PL - England TA - BioData Min JT - BioData mining JID - 101319161 PMC - PMC6802182 OTO - NOTNLM OT - Data mining OT - Lung squamous cell carcinoma OT - Methylation OT - RNA-seq OT - Smoking intensity OT - The Cancer genome atlas COIS- Competing interestsThe authors declare that they have no competing interests. EDAT- 2019/10/24 06:00 MHDA- 2019/10/24 06:01 PMCR- 2019/10/21 CRDT- 2019/10/24 06:00 PHST- 2019/06/06 00:00 [received] PHST- 2019/09/12 00:00 [accepted] PHST- 2019/10/24 06:00 [entrez] PHST- 2019/10/24 06:00 [pubmed] PHST- 2019/10/24 06:01 [medline] PHST- 2019/10/21 00:00 [pmc-release] AID - 207 [pii] AID - 10.1186/s13040-019-0207-y [doi] PST - epublish SO - BioData Min. 2019 Oct 21;12:18. doi: 10.1186/s13040-019-0207-y. eCollection 2019.