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[具体基因名称1]和[具体基因名称2]基因单核苷酸多态性与喉癌的相关性分析

Analysis of Association Between and Gene Single Nucleotide Polymorphisms and Laryngeal Cancer.

作者信息

Lv Yayun, Jia Chuanliang, Jiang Aihua, Zhang Hua, Wang Yunqiang, Liu Feifei, Yang Linlin, Sun Yan, Lv Runli, Song Xicheng

机构信息

Binzhou Medical University, Yantai, P.R. China.

Department of Otorhinolaryngology and Head and Neck Surgery, Yuhuangding Hospital of Qingdao University, Yantai, P.R. China.

出版信息

Anticancer Res. 2017 Aug;37(8):4399-4403. doi: 10.21873/anticanres.11834.

DOI:10.21873/anticanres.11834
PMID:28739733
Abstract

AIM

To investigate the p53 and O-methylguanine DNA methyltransferase (MGMT)5' upstream sequence gene promoter regions for single nucleotide polymorphisms and explore the p53 gene 5' upstream sequence consisting of two haplotypes to provide a genetic marker for the incidence of laryngeal squamous cell carcinoma.

MATERIALS AND METHODS

We included 96 cases of laryngeal squamous cell carcinoma and 102 controls. We used SNaPshot micro-sequencing analysis of the MGMT promoter region for four single nucleotide polymorphisms and p53 gene 5' upstream sequence loci (rs1625649, rs2287499, rs2287498, rs228749) genotypes. We calculated and compared two groups for genotypic and allelic frequencies, applied HaploView4.2 for computing rs2287499, rs2287498, rs228749 values and haplotype frequencies and tested control loci and Hardy-Weinberg equilibrium. All the experimental data were statistically evaluated using SPSS17.0. The Chi-square test was used for statistical analysis with p<0.05 indicating statistical significance.

RESULTS

5'Upstream single nucleotide polymorphisms rs1625649, rs2287499, rs2287498, rs228749 of p53 were polymorphic in both patient and control groups. There was no statistical significance in frequency distributions for the four loci genotypes when comparing patients and healthy controls (Chi-square values were 4.47, 0.98, 1.67, 4.68, respectively; p>0.05). However, allelic frequencies of the MGMT promoter region locus rs1625649 between patients and healthy control groups were statistically significantly different (chi-square value of 5.77; p<0.05). Differences between allelic frequencies for the p53 gene 5' upstream sequence loci rs2287499, rs2287498 and rs228749 between patients and the healthy control group were not statistically significant (Chi-square values were 1.11,1.56,3.36; p>0.05). Nor were those for the two haplotypes of rs2287499, rs2287498 and rs228749 between patients and the healthy control group were not statistically significant (Chi-square value 1.46, p>0.05).

CONCLUSION

MGMT gene polymorphism appears to be associated with the incidence of laryngeal cancer.

摘要

目的

研究p53和O - 甲基鸟嘌呤DNA甲基转移酶(MGMT)5'上游序列基因启动子区域的单核苷酸多态性,并探索由两种单倍型组成的p53基因5'上游序列,为喉鳞状细胞癌的发病提供遗传标记。

材料与方法

我们纳入了96例喉鳞状细胞癌患者和102例对照。我们使用SNaPshot微测序分析法对MGMT启动子区域的四个单核苷酸多态性和p53基因5'上游序列位点(rs1625649、rs2287499、rs2287498、rs228749)的基因型进行分析。我们计算并比较了两组的基因型和等位基因频率,应用HaploView4.2计算rs2287499、rs2287498、rs228749的值和单倍型频率,并检验对照位点和哈迪 - 温伯格平衡。所有实验数据均使用SPSS17.0进行统计学评估。采用卡方检验进行统计分析,p<0.05表示具有统计学意义。

结果

p53基因5'上游单核苷酸多态性rs1625649、rs2287499、rs2287498、rs228749在患者组和对照组中均具有多态性。比较患者和健康对照时,四个位点基因型的频率分布无统计学意义(卡方值分别为4.47、0.98、1.67、4.68;p>0.05)。然而,患者组和健康对照组之间MGMT启动子区域位点rs1625649的等位基因频率存在统计学显著差异(卡方值为5.77;p<0.05)。患者组和健康对照组之间p53基因5'上游序列位点rs2287499、rs2287498和rs228749的等位基因频率差异无统计学意义(卡方值分别为1.11、1.56、3.36;p>0.05)。患者组和健康对照组之间rs2287499、rs2287498和rs228749的两种单倍型的差异也无统计学意义(卡方值1.46,p>0.05)。

结论

MGMT基因多态性似乎与喉癌的发病有关。

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