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单核苷酸多态性与沙特阿拉伯头颈癌易感性的关系。

Involvement of single-nucleotide polymorphisms in predisposition to head and neck cancer in Saudi Arabia.

作者信息

Al-Hadyan Khaled S, Al-Harbi Najla M, Al-Qahtani Sara S, Alsbeih Ghazi A

机构信息

Radiation Biology Section, Biomedical Physics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

出版信息

Genet Test Mol Biomarkers. 2012 Feb;16(2):95-101. doi: 10.1089/gtmb.2011.0126. Epub 2011 Aug 30.

Abstract

AIM

Individuals differ in their inherited tendency to develop cancer. This has been suggested to be due to genetic variations between individuals. Single-nucleotide polymorphisms (SNPs) are the most common form of genetic variations found in the human population. The aim of this study was to investigate the association between 10 SNPs in genes involved in cell cycle control and DNA repair (p21 C31A, p53 G72C, ATM G1853A, XRCC1 G399A, XRCC3 C241T, Ku80 A2790G, DNA Ligase IV C9T, DNA-PKcs A3434G, TGF-beta T10C, MDM2 promoter T309G) and the risk to develop head and neck cancer.

MATERIALS AND METHODS

A cohort of 407 individuals (156 cancer patients and 251 controls) was included. DNA was extracted from peripheral blood. SNPs were genotyped by direct sequencing.

RESULTS

Data showed significant allelic associations for p21 C31A (p=0.04; odds ratio [OR]=1.44; confidence interval [CI]: 1.02-2.03), Ku80 A2790G (p=0.04; OR=1.5; CI: 1.01-2.23), and MDM2 T309G (p=0.0003; OR=0.58; CI: 0.43-0.78) and head and neck cancer occurrence. Both cancer cases and controls were in Hardy-Weinberg equilibrium.

CONCLUSION

SNPs can be associated with head and neck cancer in the Saudi population. The p21 C31A, Ku80 A2790G, and MDM2 T309G SNPs could be used as genetic biomarkers to screen individuals at high cancer risk.

摘要

目的

个体患癌的遗传倾向存在差异。这被认为是由于个体之间的基因变异所致。单核苷酸多态性(SNP)是在人类群体中发现的最常见的基因变异形式。本研究的目的是调查参与细胞周期调控和DNA修复的基因中的10个SNP(p21 C31A、p53 G72C、ATM G1853A、XRCC1 G399A、XRCC3 C241T、Ku80 A2790G、DNA连接酶IV C9T、DNA-PKcs A3434G、TGF-β T10C、MDM2启动子T309G)与患头颈癌风险之间的关联。

材料与方法

纳入了一个由407名个体组成的队列(156名癌症患者和251名对照)。从外周血中提取DNA。通过直接测序对SNP进行基因分型。

结果

数据显示p21 C31A(p = 0.04;优势比[OR] = 1.44;置信区间[CI]:1.02 - 2.03)、Ku80 A2790G(p = 0.04;OR = 1.5;CI:1.01 - 2.23)和MDM2 T309G(p = 0.0003;OR = 0.58;CI:0.43 - 0.78)与头颈癌的发生存在显著的等位基因关联。癌症病例组和对照组均处于哈迪-温伯格平衡。

结论

SNP可能与沙特人群的头颈癌有关。p21 C31A、Ku80 A2790G和MDM2 T309G这几个SNP可作为遗传生物标志物用于筛查癌症高危个体。

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