Association of single nucleotide polymorphisms with renal cell carcinoma in Algerian population

• Published in: African journal of urology Vol. 26; no. 1; pp. 48 - 8
• Main Authors: Bensouilah, F. Z., Chellat-Rezgoune, Dj, Garcia-Gonzalez, M. A., Carrera, N., Abadi, N., Dahdouh, A., Satta, D.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.12.2020; Springer; Springer Nature B.V; SpringerOpen
• Subjects: ALDH9A1; ATM; Cancer; Carcinoma; Development and progression; Genes; Genetic aspects; Genomics; Genotype & phenotype; Health aspects; Imaging; Kidney cancer; Lymphoma; Medical research; Medicine; Medicine & Public Health; Medicine, Experimental; Neuroendocrine tumors; Original Research; Physiological aspects; Polymorphism; Radiology; Renal cell carcinoma; Sequenom MassARRAY® iPLEX; Single nucleotide polymorphisms; Surgery; Urology; Vascular endothelial growth factor; Northern Africa; Algeria; Sequenom MassARRAY; Renal cell carcinoma; iPLEX; Polymorphism
• ISSN: 1110-5704; 1961-9987
• DOI: 10.1186/s12301-020-00055-4

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.