François Audenet1, Géraldine Cancel-Tassin2, Pierre Bigot2, Marie Audouin2, Cécile Gaffory2, Valérie Ondet2, Frédéric Thibault2, Karine Auribault2, Stéphane Gazut2, Nora Benhabiles2, Abdel-Rhamène Azzouzi2, Arnaud Méjean2, Morgan Rouprêt2, Olivier Cussenot2. 1. Centre de Recherche pour les Pathologies Prostatiques (FA, GC-T, PB, MA, CG, VO, FT, ARA, MR, OC), Paris, France; Academic Department of Urology, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (MR), Université Pierre et Marie Curie (Université Paris 06), Paris, France; ONCOTYPE-Uro (FA, GC-T, MA, CG, VO, MR, OC), Université Pierre et Marie Curie (Université Paris 06), Paris, France; ER 2 (FA, GC-T, MA, FT, KA, OC), Université Pierre et Marie Curie (Université Paris 06), Paris, France; Academic Department of Urology, Georges Pompidou European Hospital, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris Descartes, University Paris V (FA, AM), Paris, France; Academic Department of Urology, Assistance Publique-Hôpitaux de Paris, Hôpital Tenon, Groupement Hospitalier Universitaire Est (CG, VO, OC), Paris, France; Centre Hospitalier Universitaire d'Angers, Academic Department of Urology (PB, ARA), Angers, France; Sensors Signal and Information Processing Department, Information Models and Learning Laboratory, CEA LIST Institute, Saclay, France. Electronic address: francois.audenet@gmail.com. 2. Centre de Recherche pour les Pathologies Prostatiques (FA, GC-T, PB, MA, CG, VO, FT, ARA, MR, OC), Paris, France; Academic Department of Urology, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (MR), Université Pierre et Marie Curie (Université Paris 06), Paris, France; ONCOTYPE-Uro (FA, GC-T, MA, CG, VO, MR, OC), Université Pierre et Marie Curie (Université Paris 06), Paris, France; ER 2 (FA, GC-T, MA, FT, KA, OC), Université Pierre et Marie Curie (Université Paris 06), Paris, France; Academic Department of Urology, Georges Pompidou European Hospital, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris Descartes, University Paris V (FA, AM), Paris, France; Academic Department of Urology, Assistance Publique-Hôpitaux de Paris, Hôpital Tenon, Groupement Hospitalier Universitaire Est (CG, VO, OC), Paris, France; Centre Hospitalier Universitaire d'Angers, Academic Department of Urology (PB, ARA), Angers, France; Sensors Signal and Information Processing Department, Information Models and Learning Laboratory, CEA LIST Institute, Saclay, France.
Abstract
PURPOSE: Few risk factors have been identified for renal cell carcinoma. We performed a validation study in a population with a European background to identify the most significant variants previously identified in association with renal cell carcinoma risk. MATERIALS AND METHODS: We performed a case-control validation study after recruiting 463 controls and 463 patients with a histologically confirmed diagnosis of clear cell renal cell carcinoma. For each patient and matched control we genotyped 8 single nucleotide polymorphisms selected from previous studies to evaluate the association between candidate single nucleotide polymorphisms and renal cell carcinoma susceptibility. RESULTS: After adjusting for patient age, gender, smoking status and body mass index the AG + AA genotypes from rs7105934 (11q13) were associated with a decreased risk of renal cell carcinoma (OR 0.50, 95% CI 0.33-0.75, p = 0.001) and the AC + CC genotypes from rs1049380 (ITPR2) were associated with an increased risk (OR 1.66, 95% CI 1.28-2.16, p <0.001). Kidney cancer developed at an older age in patients carrying the dominant risk allele A for rs7105934 (mean age at diagnosis 73.1 vs 68.9 years, p = 0.002) and at a younger age in those carrying the dominant allele C for rs1049380 (mean 68.1 vs 70.8 years, p = 0.005). CONCLUSIONS: In what is to our knowledge the first validation study of the main 8 single nucleotide polymorphism variants associated with renal cell carcinoma susceptibility we confirmed the association of 2 single nucleotide polymorphisms with the risk of renal cell carcinoma. Each variant influenced patient age at disease diagnosis.
PURPOSE: Few risk factors have been identified for renal cell carcinoma. We performed a validation study in a population with a European background to identify the most significant variants previously identified in association with renal cell carcinoma risk. MATERIALS AND METHODS: We performed a case-control validation study after recruiting 463 controls and 463 patients with a histologically confirmed diagnosis of clear cell renal cell carcinoma. For each patient and matched control we genotyped 8 single nucleotide polymorphisms selected from previous studies to evaluate the association between candidate single nucleotide polymorphisms and renal cell carcinoma susceptibility. RESULTS: After adjusting for patient age, gender, smoking status and body mass index the AG + AA genotypes from rs7105934 (11q13) were associated with a decreased risk of renal cell carcinoma (OR 0.50, 95% CI 0.33-0.75, p = 0.001) and the AC + CC genotypes from rs1049380 (ITPR2) were associated with an increased risk (OR 1.66, 95% CI 1.28-2.16, p <0.001). Kidney cancer developed at an older age in patients carrying the dominant risk allele A for rs7105934 (mean age at diagnosis 73.1 vs 68.9 years, p = 0.002) and at a younger age in those carrying the dominant allele C for rs1049380 (mean 68.1 vs 70.8 years, p = 0.005). CONCLUSIONS: In what is to our knowledge the first validation study of the main 8 single nucleotide polymorphism variants associated with renal cell carcinoma susceptibility we confirmed the association of 2 single nucleotide polymorphisms with the risk of renal cell carcinoma. Each variant influenced patient age at disease diagnosis.
Authors: Johannes Schödel; Steffen Grampp; Eamonn R Maher; Holger Moch; Peter J Ratcliffe; Paul Russo; David R Mole Journal: Eur Urol Date: 2015-08-19 Impact factor: 20.096
Authors: Sanjana Sood; Iain J Gallagher; Katie Lunnon; Eric Rullman; Aoife Keohane; Hannah Crossland; Bethan E Phillips; Tommy Cederholm; Thomas Jensen; Luc J C van Loon; Lars Lannfelt; William E Kraus; Philip J Atherton; Robert Howard; Thomas Gustafsson; Angela Hodges; James A Timmons Journal: Genome Biol Date: 2015-09-07 Impact factor: 13.583
Authors: Pierre Bigot; Leandro M Colli; Mitchell J Machiela; Lea Jessop; Timothy A Myers; Julie Carrouget; Sarah Wagner; David Roberson; Caroline Eymerit; Daniel Henrion; Stephen J Chanock Journal: Nat Commun Date: 2016-07-07 Impact factor: 14.919