Association of microRNA target site polymorphism rs10491534 of the TSC1 gene with severity renal cell carcinoma

Timeliness. Renal cell carcinoma (RCC) is a malignant neoplasm of the kidney which accounts for about 3% of all cancers. Recent studies have shown the important role of miRNAs in the occurrence and progression of cancer. We hypothesized that genetic polymorphisms of microRNA binding sites may be associated with RCC risk. Aim of investigation. Search for associations of polymorphic variants of miRNA binding sites rs6773576 CDCP1 gene, rs10982724 DEC1 gene, rs10491534 TSC1 gene with the risk of renal cell carcinoma, and the severity of the disease. Methods. We studied 255 DNA samples from 255 RCC patients and 298 controls. Genotyping of polymorphic loci was performed by real time PCR using TaqMan-competing probes. Results. We found allele rs10491534*C to be a marker of severe renal cell carcinoma (p = 0.044; OR = 1.72 (CI = 1.012-2.911)). Genotype rs10491534*T/T (p = 0.044; OR = 0.55; (95% CI = 0.31-0.98)) - protective marker against severe RCC. The most significant association of rs10491534 in TSC1 gene with the severity of the disease was found in the dominant model: the combination of genotypes *C/T+*C/C vs *T/T (p = 0,03; OR = 1.82 (95% CI = 1.05-3.15)). Conclusions. The revealed markers of RCC severity may be promising for the prognosis of the RCC.

VHL-HIF1a путь, почечно-клеточная карцинома, полиморфизм в сайтах связывания микроРНК, VHL-HIF1a pathway, renal cell carcinoma, microRNA binding site polymorphism

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