Verma Archana, Kapoor Rakesh, Mittal Rama Devi
Department of Urology and Renal Transplantation, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh 226014 India.
Indian J Clin Biochem. 2017 Mar;32(1):74-83. doi: 10.1007/s12291-016-0580-y. Epub 2016 May 21.
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.
CD44参与癌细胞的生长、侵袭、增殖和转移，也是导致细胞对凋亡产生抗性的一个因素。因此，我们评估了该基因的不同单核苷酸多态性（SNPs），即rs187115、rs13347、rs353639、rs4755392和rs187116在北印度人群中患膀胱癌的风险。本研究招募了240例膀胱癌患者和270例无癌对照。rs4755392采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）进行基因分型。然而，rs187115、rs13347、rs353639和rs187116采用Taqman等位基因鉴别分析进行基因分型。使用SPSS进行统计分析。使用F-SNP进行电子分析。我们发现rs4755392的变异基因型TT（P = 0.011）以及变异等位基因T（P = 0.045）的风险降低。rs13347的杂合基因型CT（P = 0.023）和变异等位基因T（P = 0.007）未发现风险。显性模型CT + TT也显示风险降低（P = 0.009）。rs353639的显性模型GT + TT存在边缘风险（P = 0.044），变异等位基因T的风险降低（P = 0.040）。携带rs187116变异基因型TT的吸烟者存在显著的多重风险（P = 0.038，比值比1.960）。单倍型分析显示在4组中存在显著关联，即TCCGG（P = 0.005）、TTCGA（P = 0.039）、ACTGG（P = 0.008）和TCTGA（P = 0.006）。使用F-SNP进行的电子分析显示，rs187115、rs13347和rs353639的转录调控发生改变。我们的研究表明，rs353639对膀胱癌易感性显示出边缘风险，而rs4755392和rs13347降低了患膀胱癌的风险，rs187115和rs187116对北印度人膀胱癌易感性没有影响。
