Kaur Sukhpreet, Sambyal Vasudha, Guleria Kamlesh, Manjari Mridu, Sudan Meena, Uppal Manjit Singh, Singh Neeti Rajan, Singh Gursimran, Singh Harpreet
Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India E-mail :
Asian Pac J Cancer Prev. 2014;15(19):8413-22. doi: 10.7314/apjcp.2014.15.19.8413.
To investigate the relationship of five TP53 polymorphisms (p.P47S, p.R72P, PIN3 ins16bp, p.R213R and r.13494g>a) with the esophageal cancer (EC) risk in North Indians.
Genotyping of p.P47S, p.R72P, PIN3 ins16bp, p.R213R and r.13494g>a polymorphisms of TP53 in 136 sporadic EC patients and 136 controls using polymerase chain reaction and PCR-RFLP.
The frequencies of genotype RR, RP and PP of p.R72P polymorphism were 16.91 vs 26.47%, 58.82 vs 49.27% and 24.27 vs 24.27% among patients and controls respectively. We observed significantly increased frequency of RP genotype in cases as compared to controls (OR=1.87, 95% CI, 1.01-3.46, p=0.05). The frequencies of genotype A1A1, A1A2 and A2A2 of PIN3 ins16bp polymorphism were 69.12 vs 70.59%, 27.20 vs 25% and 3.68 vs 4.41% among patients and controls. There was no significant difference among genotype and allele distribution between patients and controls. The frequencies of genotype GG, GA and AA of r.13494g>a polymorphism were 62.50 vs 64.70%, 34.56 vs 30.15% and 2.94 vs 5.15% among patients and controls respectively. No significant difference between genotype and allele frequency was observed in the patients and controls. For p.P47S and p.R213R polymorphisms, all the cases and controls had homozygous wild type genotype. The RP-A1A1-GG genotype combination shows significant risk for EC (OR=2.01, 95%CI: 1.01-3.99, p=0.05).
Among the five TP53 polymorphisms investigated, only p.R72P polymorphism may contributes to EC susceptibility.
研究北印度人群中5种TP53基因多态性（p.P47S、p.R72P、PIN3 ins16bp、p.R213R和r.13494g>a）与食管癌（EC）风险的关系。
采用聚合酶链反应和PCR-RFLP技术对136例散发性EC患者和136例对照者的TP53基因p.P47S、p.R72P、PIN3 ins16bp、p.R213R和r.13494g>a多态性进行基因分型。
p.R72P多态性的RR、RP和PP基因型频率在患者和对照者中分别为16.91%对26.47%、58.82%对49.27%和24.27%对24.27%。与对照相比，我们观察到病例中RP基因型频率显著增加（OR=1.87，95%CI，1.01-3.46，p=0.05）。PIN3 ins16bp多态性的A1A1、A1A2和A2A2基因型频率在患者和对照者中分别为69.12%对70.59%、27.20%对25%和3.68%对4.41%。患者和对照者之间的基因型和等位基因分布无显著差异。r.13494g>a多态性的GG、GA和AA基因型频率在患者和对照者中分别为62.50%对64.70%、34.56%对30.15%和2.94%对5.15%。患者和对照者之间未观察到基因型和等位基因频率的显著差异。对于p.P47S和p.R213R多态性，所有病例和对照均为纯合野生型基因型。RP-A1A1-GG基因型组合显示出患EC的显著风险（OR=2.01，95%CI：1.01-3.99，p=0.05）。
在所研究的5种TP53基因多态性中，只有p.R72P多态性可能与EC易感性有关。
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