Germline Genetic Variations at 11q13 and 12p11 Locus Modulate Age at Onset for Renal Cell Carcinoma
| Autor: | Karine Auribault, Marie Audouin, Geraldine Cancel-Tassin, F. Thibault, Pierre Bigot, Nora Benhabiles, Morgan Rouprêt, Abdel-Rhamène Azzouzi, C. Gaffory, V. Ondet, Stéphane Gazut, Olivier Cussenot, Arnaud Mejean, François Audenet |
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| Přispěvatelé: | Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service d'urologie [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire d'analyse des données et d'intelligence des systèmes (LADIS), Département Métrologie Instrumentation & Information (DM2I), Laboratoire d'Intégration des Systèmes et des Technologies (LIST), Direction de Recherche Technologique (CEA) (DRT (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Technologique (CEA) (DRT (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Laboratoire d'Intégration des Systèmes et des Technologies (LIST), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Service d'Urologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire d'Intégration des Systèmes et des Technologies (LIST (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Laboratoire d'Intégration des Systèmes et des Technologies (LIST (CEA)) |
| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: |
Oncology
Male endothelial PAS domain protein 1 genotype polymerase chain reaction Genome-wide association study carcinoma Bioinformatics 0302 clinical medicine Renal cell carcinoma Risk Factors single nucleotide polymorphism Genotype Medicine GWAS Age of Onset risk 2. Zero hunger 0303 health sciences education.field_of_study Kidney clear cell RCC Middle Aged RCC [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM] Kidney Neoplasms 3. Good health medicine.anatomical_structure PCR type 2 030220 oncology & carcinogenesis Female inositol 1 4 5-triphosphate receptor medicine.medical_specialty kidney renal cell carcinoma Urology Population SNP Single-nucleotide polymorphism body mass index [SDV.CAN]Life Sciences [q-bio]/Cancer Polymorphism Single Nucleotide White People 03 medical and health sciences BMI EPAS1 Internal medicine Carcinoma Humans Genetic Predisposition to Disease education Carcinoma Renal Cell 030304 developmental biology Aged AGT [SDV.GEN]Life Sciences [q-bio]/Genetics genome-wide association study business.industry Chromosomes Human Pair 11 ccRCC ITPR2 Genetic Variation medicine.disease Clear cell renal cell carcinoma angiotensinogen Case-Control Studies Multivariate Analysis genetic business |
| Zdroj: | Journal of Urology Journal of Urology, Elsevier, 2014, 191 (2), pp.487-492. ⟨10.1016/j.juro.2013.07.064⟩ Journal of Urology, 2014, 191 (2), pp.487-492. ⟨10.1016/j.juro.2013.07.064⟩ |
| ISSN: | 0022-5347 |
| Popis: | International audience; 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 |
| Databáze: | OpenAIRE |
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