() Gene Variants: A Putative Cancer Stem Cell Marker in Risk Prediction of Bladder Cancer in North Indian Population.

CD44 is involved in cancer-cell growth, invasion, proliferation and metastasis and is also a causal factor for acquisition of resistance to apoptosis. Therefore we evaluated different SNPs of gene viz. , , , and for bladder cancer risk in North Indian population. 240 bladder cancer patients and 270 cancer free controls were recruited in this study. Genotyping was done by PCR-RFLP for . However, , , and were genotyped by allelic discrimination Taqman assay. Statistical analysis was done by SPSS. In-silico analysis was done using F-SNP. We found reduced risk in variant genotype, TT of rs4755392 ( = 0.011) as well as in variant allele, T ( = 0.045). No risk was seen in rs13347, heterozygous genotype, CT ( = 0.023) and variant allele, T ( = 0.007). The dominant model, CT + TT also revealed reduced risk ( = 0.009). A marginal risk was seen in dominant model, GT + TT of rs353639 ( = 0.044) and reduced risk in variant allele T ( = 0.040). A significant manifold risk was seen in smokers carrying variant genotype, TT of ( = 0.038, OR 1.960). Haplotypic analysis revealed significant association in 4 sets viz. TCCGG  = 0.005, TTCGA  = 0.039, ACTGG  = 0.008 and TCTGA  = 0.006. In-silico analysis using F-SNP, showed altered transcriptional regulation for rs187115, rs13347 and rs353639. Our study suggests that rs353639 shows a marginal risk for bladder cancer susceptibility, whereas rs4755392 and rs13347 have reduced risk of bladder cancer and rs187115 and rs187116 had no effect on bladder cancer susceptibility in North Indians.