T375c Mutation of FGFR3 Gene in Bladder Epithelial Cells of Patients with Bladder Cancer

The FGFR3 gene plays an important role in regulating growth, differentiation and angiogenesis. The genetic changes of the FGFR3 gene are one of the most important factors in bladder cancer. Active mutations of FGFR3 have been observed in about 70% of non-muscle-invasive bladder cancers. The present study was conducted to evaluate T375C mutation of FGFR3 gene in genomic DNA extracted from bladder epithelial cells and the risk of bladder cancer.
In this case-control study, 100 healthy individuals and 100 patients with bladder cancer who referred to health centers in northern Iran were selected using convenience sampling after confirmation of the diagnosis of this disease after pathological examinations of the biopsy. Differences in the frequency of allele and genotype were evaluated. After urine centrifugation, genomic DNA was extracted from cell precipitate using commercial kit. The status of T375C mutation of FGFR3 gene was studied using specific primers and tetra-ARMS-PCR technique.
FINDINGS: The frequency of genotypes was 94% (TT), 4% (TC) and 2% (CC) in the case group versus the absence of the TC and CC genotypes in the control group. There was a significant relationship between allelic and genotypic distribution (p = 0.0124 and p = 0.0192, respectively).
The results indicate that the T375C mutation of the FGFR3 gene may be a genetic susceptibility factor to bladder cancer.