Abstract
Background
Renal cell carcinoma (RCC) is a common malignant tumor of the urinary system. The etiology of RCC is a complex interaction between environmental and multigenetic factors. Genome-wide association studies have identified new susceptibility risk loci for RCC. We examined associations of genetic variants of genes that are involved in metabolism, DNA repair and oncogenes with renal cancer risk. A total of 14 single nucleotide polymorphisms (SNPs) in 11 genes (VEGF, VHL, ATM, FAF1, LRRIQ4, RHOBTB2, OBFC1, DPF3, ALDH9A1 and EPAS1) were examined.
Methods
The current case–control study included 87 RCC patients and 114 controls matched for age, gender and ethnic origin. The 14 tag-SNPs were genotyped by Sequenom MassARRAY® iPLEX using blood genomic DNA.
Results
Genotype CG and allele G of ATM rs1800057 were significantly associated with RCC susceptibility (p = 0.043; OR = 8.47; CI = 1.00–71.76). Meanwhile, we found that genotype AA of rs67311347 polymorphism could increase the risk of RCC (p = 0.03; OR = 2.95; IC = 1.10–7.89). While, genotype TT and T allele of ALDH9A1 rs3845536 were observed to approach significance for a protective role against RCC (p = 0.007; OR = 0.26; CI = 0.09–0.70).
Conclusion
Our results indicate that ATM rs1800057 may have an effect on the risk of RCC, and suggest that ALDH9A1 was a protective factor against RCC in Algerian population.
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Details
1 University Constantine 1, Department of Animal Biology, Laboratory of Molecular and Cellular Biology, Constantine, Algeria (GRID:grid.410699.3) (ISNI:0000 0004 0593 5112); University Constantine 3, Laboratory of Biology and Molecular Genetics, Constantine, Algeria (GRID:grid.410699.3)
2 Group of Genetics and Developmental Biology of Renal Diseases, Health Research Institute of Santiago (IDIS), Santiago de Compostela, Spain (GRID:grid.488911.d) (ISNI:0000 0004 0408 4897)
3 University Constantine 3, Laboratory of Biology and Molecular Genetics, Constantine, Algeria (GRID:grid.488911.d)
4 Hospital of Uro-Nephrology, Department of Urology and Renal Transplantation, Constantine, Algeria (GRID:grid.488911.d)