Abstract
BackgroundRenal 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.MethodsThe 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.ResultsGenotype 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).ConclusionOur 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.
Highlights
Renal cell carcinoma (RCC) is a common malignant tumor of the urinary system
4 Discussion In the present study, we evaluated the association between 14 Single nucleotide polymorphism (SNP) including vascular endothelial growth factor (VEGF) (-2578C/A [rs699947], -460T/C [rs833061] and +405C/G [rs2010963]), Von Hippel–Lindau (VHL), FAF1, Table 4 Association of the Ataxia telangiectasia mutated (ATM) rs1800057 and Aldehyde dehydrogenase 9 family member A1 (ALDH9A1) rs3845536 genotypes with RCC histologic type
The previously published data have reported that these polymorphisms might be risk factors for RCC especially in Asian population [11, 12] (Table 5), our results showed that no significant associations were found between the VHL and VEGF functional polymorphisms and RCC susceptibility
Summary
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 iden‐ tified 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. Renal cell carcinoma (RCC) is the predominant form of kidney malignancy, there has been an increased incidence of RCC globally, with higher incidences and mortality rates reported in men and Caucasian populations. HIFs increased transcription of their downstream genes, considered to be important in cancer, including vascular endothelial growth factor (VEGF) [6]. In the present study, we investigate the association of three functional SNPs (–2578C/A [rs699947], –460T/C [rs833061] and +405C/G [rs2010963]) in VEGF gene, and two SNPs (rs1642742 and rs779805) in the VHL gene with RCC risk. Other new loci may be involved in genetic predisposition to RCC
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