Phenome-Wide Scan Finds Potential Orofacial Risk Markers for Cancer.
作者： Mariana Bezamat , Benjamin Harrison , Yuqiao Zhou , Katherine M. Glickman , Vicente Telles
DOI: 10.1038/S41598-020-61654-3
关键词: Oncology 、 Edentulism 、 Single-nucleotide polymorphism 、 Phenome 、 Tooth loss 、 Internal medicine 、 Epidemiology 、 Cancer 、 Medicine 、 Disease 、 Leukoplakia
摘要: Cancer is a disease caused by process that drives the transformation of normal cells into malignant cells. The late diagnosis cancer has negative impact on health care system due to high treatment cost and decreased chances favorable prognosis. Here, we aimed identify orofacial conditions can serve as potential risk markers for cancers performing phenome-wide scan (PheWAS). From pool 6,100 individuals, both genetic epidemiological data 1,671 individuals were selected: 350 because they previously diagnosed with 1,321 match those had cancer, based age, sex, ethnicity serving comparison group. Results this study showed when analyzing affected separately, tooth loss/edentulism associated SNPs in AXIN2 (rs11867417 p = 0.02 rs2240308 p = 0.02), leukoplakia oral mucosa (rs2240308 p = 0.03) RHEB (rs2374261 p = 0.03). These phenotypes did not show same trends patients allowing conclusion these are unique cases higher risk.
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sci-hub.se 参考文章(45)
Paul A. Harris, Robert Taylor, Robert Thielke, Jonathon Payne, Nathaniel Gonzalez, Jose G. Conde, Research electronic data capture (REDCap)-A metadata-driven methodology and workflow process for providing translational research informatics support Journal of Biomedical Informatics. ,vol. 42, pp. 377- 381 ,(2009) , 10.1016/J.JBI.2008.08.010
Anita Fekonja, Andrej Čretnik, Iztok Takač, Hypodontia prevalence and pattern in women with epithelial ovarian cancer. Angle Orthodontist. ,vol. 84, pp. 810- 814 ,(2014) , 10.2319/112813-876.1
Robert J. Carroll, Lisa Bastarache, Joshua C. Denny, R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment Bioinformatics. ,vol. 30, pp. 2375- 2376 ,(2014) , 10.1093/BIOINFORMATICS/BTU197
J. C. Denny, M. D. Ritchie, M. A. Basford, J. M. Pulley, L. Bastarache, K. Brown-Gentry, D. Wang, D. R. Masys, D. M. Roden, D. C. Crawford, PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics. ,vol. 26, pp. 1205- 1210 ,(2010) , 10.1093/BIOINFORMATICS/BTQ126
Tesfaye B Mersha, Tilahun Abebe, Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities Human Genomics. ,vol. 9, pp. 1- 15 ,(2015) , 10.1186/S40246-014-0023-X
Bahram Namjou, Keith Marsolo, Robert J. Caroll, Joshua C. Denny, Marylyn D. Ritchie, Shefali S. Verma, Todd Lingren, Aleksey Porollo, Beth L. Cobb, Cassandra Perry, Leah C. Kottyan, Marc E. Rothenberg, Susan D. Thompson, Ingrid A. Holm, Isaac S. Kohane, John B. Harley, Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis Frontiers in Genetics. ,vol. 5, pp. 401- 401 ,(2014) , 10.3389/FGENE.2014.00401
Nishitha Joshi, Ahmad M Hamdan, Walid D Fakhouri, Skeletal Malocclusion: A Developmental Disorder With a Life-Long Morbidity Journal of Clinical Medicine Research. ,vol. 6, pp. 399- 408 ,(2014) , 10.14740/JOCMR1905W
Jyotishman Pathak, Richard C Kiefer, Suzette J Bielinski, Christopher G Chute, Applying semantic web technologies for phenome-wide scan using an electronic health record linked Biobank Journal of Biomedical Semantics. ,vol. 3, pp. 10- 10 ,(2012) , 10.1186/2041-1480-3-10
Alexandre R Vieira, Toby G McHenry, Sandra Daack-Hirsch, Jeffrey C Murray, Mary L Marazita, Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. Genetics in Medicine. ,vol. 10, pp. 668- 674 ,(2008) , 10.1097/GIM.0B013E3181833793
Marisi Aidar, Sergio Roberto Peres Line, A simple and cost-effective protocol for DNA isolation from buccal epithelial cells Brazilian Dental Journal. ,vol. 18, pp. 148- 152 ,(2007) , 10.1590/S0103-64402007000200012