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生存素启动子多态性(-31 C/G):口腔癌的一个遗传风险因素。

Survivin Promoter Polymorphism (-31 C/G): A Genetic Risk Factor for Oral Cancer.

作者信息

Mehdi Rehana Faryal, Sheikh Fouzia, Khan Rizma, Fawad Bina, Haq Ahteshaam Ul

机构信息

Department of Pathology, Ziauddin University Clifton campus, Karachi, Pakistan. Email:

Department of Molecular Genetic, Ziauddin University North Nazimabad campus, Karachi, Pakistan.

出版信息

Asian Pac J Cancer Prev. 2019 Apr 29;20(4):1289-1293. doi: 10.31557/APJCP.2019.20.4.1289.

DOI:10.31557/APJCP.2019.20.4.1289
PMID:31031231
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6948886/
Abstract

Background: The polymorphism of survivin gene at its promoter region is one of the risk factors for OSCC . This polymorphism involves substitution of G for C (9904341), and it is present at the cell cycle dependent elements and cell cycle homology region repressor binding motif of promoter. This study aimed to find the association between survivin -31C/G polymorphism and prevalence of OSCC in a subset of Pakistani population. Methodology: This case-control study was conducted on 47 cases with and 101 healthy individuals with no family history of cancer. We used polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) protocols. Results: The most common site of oral cancer in our research was the buccal mucosa followed by tongue and the least one was the labial mucosa. The histological tumor type of all 47 cases was squamous cell type. In our research, stage II had the highest prevalence, accounting for 34% of patients, while the prevalence of stage I was 31% in the case group. The prevalence of stage III and IV was 25% and 8%, respectively. The numbers of moderately and poorly differentiated tumors were equal. We found a significant association between the CC genotype of survivin and OSCC prevalence (OR was 9.395 at 95% CI: 1.0202-86.5251, p-value= 0.04). The GG genotype also showed significant P value (OR: 0.4709 with 95% CI: 0.2323- 0.9546 at a P VALUE of 0.0367). while no significant P value was noted for CG genotype (OR: 1.4317 with 95% CI: 0.7513 -2.8658, p- value= 0.31). Conclusion: Survivin -31G/C polymorphism was strongly associated with OSCC prevalence. The C allele was more common in case group as compared to healthy individuals living in Pakistan.

摘要

背景

生存素基因启动子区域的多态性是口腔鳞状细胞癌(OSCC)的危险因素之一。这种多态性涉及G被C替代(9904341),且存在于启动子的细胞周期依赖性元件和细胞周期同源区域阻遏物结合基序中。本研究旨在探讨巴基斯坦部分人群中生存素-31C/G多态性与OSCC患病率之间的关联。

方法

本病例对照研究纳入了47例患者和101名无癌症家族史的健康个体。我们采用了聚合酶链反应和限制性片段长度多态性(PCR-RFLP)技术。

结果

在我们的研究中,口腔癌最常见的部位是颊黏膜,其次是舌,最少见的是唇黏膜。47例患者的组织学肿瘤类型均为鳞状细胞型。在我们的研究中,II期患病率最高,占患者的34%,而病例组中I期患病率为31%。III期和IV期的患病率分别为25%和8%。中分化和低分化肿瘤的数量相等。我们发现生存素的CC基因型与OSCC患病率之间存在显著关联(95%置信区间为1.0202-86.5251时,比值比为9.395,p值=0.04)。GG基因型也显示出显著的p值(p值为0.0367时,比值比为0.4709,95%置信区间为0.2323-0.9546)。而CG基因型未观察到显著的p值(比值比为1.4317,95%置信区间为0.7513-2.8658,p值=0.31)。

结论

生存素-31G/C多态性与OSCC患病率密切相关。与生活在巴基斯坦的健康个体相比,C等位基因在病例组中更为常见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b56/6948886/184b112c0387/APJCP-20-1289-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b56/6948886/a9529543c5bf/APJCP-20-1289-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b56/6948886/184b112c0387/APJCP-20-1289-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b56/6948886/a9529543c5bf/APJCP-20-1289-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b56/6948886/184b112c0387/APJCP-20-1289-g002.jpg

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