Singh Sanjay, Gupta Manish, Seam Rajeev Kumar, Changotra Harish
Department of Biotechnology and Bioinformatics, Jaypee University of Information Technology, Waknaghat, Himachal Pradesh, India.
Department of Radiotherapy and Oncology (Regional Cancer Center), Indira Gandhi Medical College, Circular Road, Lakkar Bazar, Shimla, Himachal Pradesh, India.
Int J Biol Markers. 2018 Nov;33(4):389-394. doi: 10.1177/1724600818768459. Epub 2018 Apr 24.
Altered expression of many E2F family members have been reported in various human cancers. In this study, we investigated the role of non-synonymous single nucleotide polymorphisms (rs3213172 C/T, rs3213173 C/T, and rs3213176 G/A) of the gene with cervical cancer.
A total of 181 samples including 90 cervical cancer patients and 91 healthy controls were genotyped. The genotype frequencies of these polymorphisms in collected samples were determined by either PCR-RFLP or PCR-ARFLP methods. SHEsis software was used to analyze the haplotypes.
Statistically significant differences in the and the genotypes frequencies were observed in rs3213172 (C/T) and rs3213173 (C/T) polymorphisms. The rs3213172 (C/T) polymorphism was a risk factor for cervical cancer in dominant model (odds ratio (OR) 1.96; 95% confidence interval (CI) 1.07, 3.60; = 0.02) and heterozygous model (OR 1.90; 95% CI 1.01, 3.57; = 0.04). The rs3213173 (C/T) polymorphism increased the risk of cervical cancer in the homozygous model (OR 2.71; 95% CI 1.11, 6.58; = 0.02). The rs3213176 (G/A) polymorphism was not associated with cervical cancer risk in any of the genotypic models. In the haplotypes analysis, three haplotypes (CTG, TCG, and TTA) were associated with the cervical cancer risk.
These findings revealed that rs3213172 (C/T) and rs3213173 (C/T) polymorphisms and haplotypes (CTG, TCG, and TTA) of the gene might play role in the susceptibility of cervical cancer. This is the first report showing an association of these polymorphisms with the cervical cancer risk.
在多种人类癌症中均有报道许多E2F家族成员的表达发生改变。在本研究中,我们调查了该基因的非同义单核苷酸多态性(rs3213172 C/T、rs3213173 C/T和rs3213176 G/A)与宫颈癌的关系。
对总共181份样本进行基因分型,其中包括90例宫颈癌患者和91例健康对照。通过PCR-RFLP或PCR-ARFLP方法确定所收集样本中这些多态性的基因型频率。使用SHEsis软件分析单倍型。
在rs3213172(C/T)和rs3213173(C/T)多态性中观察到等位基因和基因型频率存在统计学上的显著差异。rs3213172(C/T)多态性在显性模型(优势比(OR)1.96;95%置信区间(CI)1.07, 3.60;P = 0.02)和杂合子模型(OR 1.90;95% CI 1.01, 3.57;P = 0.04)中是宫颈癌的一个危险因素。rs3213173(C/T)多态性在纯合子模型中增加了宫颈癌风险(OR 2.71;95% CI 1.11, 6.58;P = 0.02)。rs3213176(G/A)多态性在任何基因型模型中均与宫颈癌风险无关。在单倍型分析中,三种单倍型(CTG、TCG和TTA)与宫颈癌风险相关。
这些发现表明该基因的rs3213172(C/T)和rs3213173(C/T)多态性以及单倍型(CTG、TCG和TTA)可能在宫颈癌易感性中起作用。这是首次报道这些多态性与宫颈癌风险的关联。