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Association of RNASEL and 8q24 variants with the presence and aggressiveness of hereditary and sporadic prostate cancer in a hispanic population
Authors:Ignacio F San Francisco  Pablo A Rojas  Verónica Torres‐Estay  Susan Smalley  Javier Cerda‐Infante  Viviana P Montecinos  Claudia Hurtado  Alejandro S Godoy
Institution:1. Departamento de Urología, Facultad de Medicina, Pontificia Universidad Católica de Chile, , Santiago, Chile;2. Departamento de Ciencias Fisiológicas, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, , Santiago, Chile;3. Departamento de Nutrición, Metabolismo y Diabetes, Facultad Medicina, Pontifica Universidad Católica de Chile, , Santiago, Chile;4. Departamento de Hemato‐Oncología, Facultad de Medicina, Pontificia Universidad Católica de Chile, , Santiago, Chile;5. Laboratorio de Oncología y Genética Molecular, Clínica Las Condes, , Santiago, Chile;6. Department of Urology, Roswell Park Cancer Institute, , Buffalo, NY, USA
Abstract:To study the association between the polymorphisms Arg462Gln and Asp541Glu from the RNASEL gene (1q25), and the polymorphisms rs620861, rs1447295, rs6983267, rs7837328 from the chromosome 8q24 with the risk of presenting prostate cancer (PCa) and its clinical characteristics in a Hispanic (Chilean) population. The study was performed on 21 control patients and 83 patients diagnosed with PCa. Polymorphisms were analysed from blood samples through real‐time PCR by using TaqMan probes, and the genetic analysis was performed with the SNPStats program. Also, a comparison was performed between clinical characteristics of PCa and the presence of the different polymorphism genotypes by using the Minitab software. There was a significant association between the genotype G/G from the polymorphism rs6983267 with an overall increased risk of PCa, in patients both with or without family history of PCa (OR = 4.47, 95% CI = 1.05–18.94, P = 0.034 and OR = 3.57, 95% CI = 0.96–13.35, P = 0.037, respectively). Regarding clinical parameters, patients carrying the genotype C/C from the polymorphism Asp541Glu had significantly higher prostate‐specific antigen (PSA) levels than patients carrying the other genotypes (P = 0.034). Moreover, patients with the genotype G/G of rs6983267 had higher PSA levels (P = 0.024). The polymorphism rs6983267 from region 3 of the chromosome 8q24 appears to be a prominent risk factor for PCa and a biomarker for cancer aggressiveness in the group of patients who presented higher levels of PSA at the time of diagnosis.
Keywords:rs6983267  8q24     RNASEL     prostate cancer  polymorphism
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