The Relationship between ALA16VAL Single Gene Polymorphism and Renal Cell Carcinoma

Dogan Atilgan,Huseyin Ozyurt,Unal Erkorkmaz,Engin Kolukcu,Bekir S Parlaktas,Nihat Uluocak,Fikret Erdemir

doi:10.1155/2014/932481

Dogan Atilgan, Huseyin Ozyurt + Show 5 more

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https://doi.org/10.1155/2014/932481

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Abstract

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 P 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 (P = 0.039). The Ala/Ala+Ala/Val genotypes were found significantly suspicious for RCC with an OR of 2.64 (95% CI = 1.06–6.69, P = 0.039). In addition, Ala allele was found significantly suspicious for RCC with an OR of 2.26 (95% CI = 1.24–4.12, P = 0.009). Conclusion. Our study indicated that MnSOD Ala16Val polymorphism may be one of the many genetic factors for renal cancer susceptibility in Turkish patients.

Highlights

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]
The distributions of the MnSOD Ala16Val genotypes were consistent with the Hardy-Weinberg equilibrium (HWE)
The distributions of the MnSOD genotypes in RCC patients were consistent with the HWE

Summary

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]. 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, β Thalassemia, and cystic fibrosis may result due to SNPs [5,6,7]. The SNPs without an observable impact on the phenotype are still useful as genetic markers in genome-wide association studies, because of their quantity and the stable inheritance over generations [9]

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Conclusion