3.8 Article

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

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AFRICAN JOURNAL OF UROLOGY
卷 26, 期 1, 页码 -

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SPRINGER
DOI: 10.1186/s12301-020-00055-4

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Renal cell carcinoma; Polymorphism; Sequenom MassARRAY(R)iPLEX; ATM

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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(R)iPLEX using blood genomic DNA. Results Genotype CG and allele G ofATM rs1800057were significantly associated with RCC susceptibility (p = 0.043; OR = 8.47; CI = 1.00-71.76). Meanwhile, we found that genotype AA ofrs67311347polymorphism could increase the risk of RCC (p = 0.03; OR = 2.95; IC = 1.10-7.89). While, genotype TT and T allele ofALDH9A1 rs3845536were 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 thatATM rs1800057may have an effect on the risk of RCC, and suggest thatALDH9A1was a protective factor against RCC in Algerian population.

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