%0 Journal Article
%T The Relationship between ALA16VAL Single Gene Polymorphism and Renal Cell Carcinoma
%A Dogan Atilgan
%A Bekir S. Parlaktas
%A Nihat Uluocak
%A Engin Kolukcu
%A Fikret Erdemir
%A Huseyin Ozyurt
%A Unal Erkorkmaz
%J Advances in Urology
%D 2014
%I Hindawi Publishing Corporation
%R 10.1155/2014/932481
%X Objectives. The aim of this study was to investigate the association of RCC and Ala16Val polymorphism in Turkish patients with RCC. Materials and Methods. A total of 41 patients with RCC who underwent radical or partial nephrectomy in our clinic and 50 healthy volunteers living in the same geographic area were included in this study. DNA samples from serum of RCC patients and controls were genotyped for MnSOD polymorphism analysis. Genotype ratios and allele frequencies were compared between two groups and odd ratios with 95% confidence intervals were calculated statistically. A value of <0.05 was considered statistically significant. Results. There was a significant difference in the MnSOD genotype distributions between the RCC patients and the controls in terms of Ala/Ala+Ala/Val and Val/Val genotypes ( ). The Ala/Ala+Ala/Val genotypes were found significantly suspicious for RCC with an OR of 2.64 (95% CI = 1.06¨C6.69, ). In addition, Ala allele was found significantly suspicious for RCC with an OR of 2.26 (95% CI = 1.24¨C4.12, ). Conclusion. Our study indicated that MnSOD Ala16Val polymorphism may be one of the many genetic factors for renal cancer susceptibility in Turkish patients. 1. Introduction Renal cell carcinoma (RCC) is the most common malignancy of the kidney and it constitutes approximately 3% of all adult malignancies and more than 90% of renal cancers [1]. RCC originates from the tubular structures of the kidney and is classified into 4 main histological types. Of all types, the most common type seen clear cell renal cell carcinoma (ccRCC) accounts for about 75% of all RCC cases [2]. Cigarette smoking, body mass index, and heredity are the most important risk factors that are associated with RCC. Approximately, 4% of all RCC are hereditary as well [3]. Single nucleotide polymorphism (SNP) is defined as a DNA sequence variation occurring when a single nucleotide, A, T, C, or G, in the genome differs between members of a biological species or paired chromosomes in a human [4]. The association of SNPs in genomes with various systemic diseases and malignancies has been shown in many previous studies. In addition to the SNPs in genes which provide production of superoxide dismutase (SOD), glutathione peroxidase (GPX), and paroxonase (PON), a wide range of human diseases like cancer, infectious diseases, autoimmune, neuropsychiatric, sickle-cell anemia, ¦Â Thalassemia, and cystic fibrosis may result due to SNPs [5¨C7]. As a result, the diseases which develop due to different SNPs may become relevant pharmacogenomic targets for drug therapy [8].
%U http://www.hindawi.com/journals/au/2014/932481/