The association between the TERT rs2736100 AC genotype and reduced risk of upper tract urothelial carcinomas in a Han Chinese population.

作者: Xiaotian Yuan , Yan Meng , Ping Li , Nan Ge , Feng Kong

DOI: 10.18632/ONCOTARGET.7777

关键词:

摘要: Upper tract urothelial carcinomas (UTUCs) are originated from urothelium, and consist of renal pelvic (RPCs) ureter (UCs). Most UTUCs have already become invasive when diagnosed there is thus a need to identify high-risk populations for preventive intervention. Recent evidence has accumulated supporting common single nucleotide polymorphisms (SNPs) be associated with increased risk various malignancies. However, little known about susceptibility loci in relation UTUC development. We genotyped telomerase reverse transcriptase (TERT) rs2736100 variants, the SNP multiple-types cancer, patients (n = 212) evaluated relationship between by comparing 289 healthy controls. Neither AA nor CC genotypes differed significantly cases controls, while AC-carriers were reduced compared homozygous (OR 0.583; 95% CI: 0.388 - 0.875; P 0.012) or + (0.613; 0.428 0.879; 0.010). Further analyses showed that AC variant conferred lower early stage those wt TERT promoter. When sub-grouped into UCs RPCs, genotype still predicts UC (P 0.045, OR 0.597, 0.370 0.963), at border line significance RPC 0.055, 0.324 0.976). Collectively, develop UTUC.

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