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• W2014201275 abstract "No AccessJournal of UrologyInvestigative Urology1 Aug 2013The CASP8 -652 6N Insertion/Deletion Promoter Polymorphism is Associated with Renal Cell Carcinoma Risk and Metastasis Michela de Martino, Andrea Haitel, Georg Schatzl, Hans Christoph Klingler, and Tobias Klatte Michela de MartinoMichela de Martino More articles by this author , Andrea HaitelAndrea Haitel More articles by this author , Georg SchatzlGeorg Schatzl More articles by this author , Hans Christoph KlinglerHans Christoph Klingler More articles by this author , and Tobias KlatteTobias Klatte More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2013.01.008AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: Caspase-8 is a key regulator of apoptosis. Its cancer cell antigen induced cell death activity is strongly impacted by the insertion/deletion promoter polymorphism CASP8 -652 6N ins/del (rs3834129). We studied the association of this polymorphism with renal cell carcinoma risk and pathology. Materials and Methods: In this hospital based case-control study 500 Austrian patients were genotyped, including 250 with renal cell carcinoma, and 250 age and gender matched healthy controls. Polymerase chain reaction amplified genomic DNA was evaluated by restriction fragment length polymorphism analysis and automatic sequencing. We assessed associations with renal cell carcinoma risk and pathological factors, and performed a meta-analysis of the literature. Results: The CASP8 -652 6N ins/del polymorphism was significantly linked to renal cell carcinoma (chi-square for trend = 9.50, p = 0.002). Compared with ins/ins, del/del was associated with a 57% decreased risk of the disease (OR 0.43, 95% CI 0.26–0.73, p = 0.002). Furthermore, del/del was associated with a lower risk of distant metastases (p <0.05) but not with T stage, N stage or grade. On meta-analysis the CASP8 -652 6N ins/del polymorphism was associated with renal cell carcinoma risk (p <0.001). Conclusions: The del/del genotype of the CASP8 -652 6N ins/del promoter polymorphism decreases the overall risk of renal cell carcinoma. It may be associated with a decreased risk of metastasis. Larger studies are warranted to validate our findings. References 1 : Epidemiology and risk factors for kidney cancer. Nat Rev Urol2010; 7: 245. Google Scholar 2 : Contemporary epidemiology of renal cell carcinoma: perspectives of primary prevention. World J Urol2010; 28: 247. Google Scholar 3 : Genetic variation in caspase genes and risk of non-Hodgkin lymphoma: a pooled analysis of 3 population-based case-control studies. Blood2009; 114: 264. Google Scholar 4 : Association of selected polymorphisms of CCND1, p21, and caspase8 with colorectal cancer risk. 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Google Scholar 18 : Role of apoptosis in disease. Aging (Albany NY)2012; 4: 330. Google Scholar 19 : A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers. Nat Genet2007; 39: 605. Google Scholar 20 : Caspase-8 in cancer biology and therapy. Cancer Lett2009; 281: 128. Google Scholar 21 : Influence of caspases 8 and 9 gene promoter polymorphism on prostate cancer susceptibility and early development of hormone refractory prostate cancer. BJU Int2011; 107: 471. Google Scholar 22 : No adjustments are needed for multiple comparisons. Epidemiology1990; 1: 43. Google Scholar Departments of Urology and Clinical Pathology (AH), Medical University of Vienna, Vienna, Austria© 2013 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetailsCited byde Martino M, Haitel A, Schatzl G and Klatte T (2018) The Protease Activated Receptor 1 Gene Variation IVSn –14 A>T is Associated with Distant Metastasis and Cancer Specific Survival in Renal Cell CarcinomaJournal of Urology, VOL. 190, NO. 4, (1392-1397), Online publication date: 1-Oct-2013.Andersson K (2018) This Month in Investigative UrologyJournal of Urology, VOL. 190, NO. 2, (377-378), Online publication date: 1-Aug-2013. Volume 190Issue 2August 2013Page: 717-722Supplementary Materials Advertisement Copyright & Permissions© 2013 by American Urological Association Education and Research, Inc.Keywordskidneyriskcarcinoma, renal cellcaspase 8polymorphism, single nucleotideMetricsAuthor Information Michela de Martino More articles by this author Andrea Haitel More articles by this author Georg Schatzl More articles by this author Hans Christoph Klingler More articles by this author Tobias Klatte More articles by this author Expand All Advertisement PDF downloadLoading ..." @default.
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• W2014201275 title "The<i>CASP8</i>-652 6N Insertion/Deletion Promoter Polymorphism is Associated with Renal Cell Carcinoma Risk and Metastasis" @default.
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