着色性干皮病C组基因多态性与鼻咽癌的遗传易感性

The xeroderma pigmentosum group C gene polymorphisms and genetic susceptibility of nasopharyngeal carcinoma.

作者信息

Yang Zhi-Hui, Liang Wei-Bo, Jia Jing, Wei Ye-Sheng, Zhou Bin, Zhang Lin

机构信息

Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, Sichuan, China.

出版信息

Acta Oncol. 2008;47(3):379-84. doi: 10.1080/02841860701558815.

Abstract

AIMS

Nasopharyngeal cancer (NPC) is a multi-factorial disease, and the genetic background may be a crucial etiologic factor. The xeroderma pigmentosum complementation group C (XPC) is mainly involved in DNA damage repair, and the sequence variants in XPC gene may modulate DNA repair capacity and consequently lead to an individual's susceptibility to NPC. The aims of this study were to examine the association between XPC Val499Ala, Lys939Gln, PAT polymorphisms and the genetic susceptibility of nasopharyngeal carcinoma (NPC) in Chinese population.

METHODS

We analyzed the three XPC gene polymorphisms in 153 patients with NPC and 168 age- and sex-matched controls in a Chinese population, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) procedure.

RESULTS

There were significant differences in the genotype and allele distribution of XPC Val499Ala among cases and controls. The 499Val allele carriers were associated with a significantly increased risk of NPC compared with the non-carriers (OR=1.603; 95%CI,1.160 approximately 2.216, p=0.005). Consistent with the results of the genotype analysis, the 499Val/939Lys/PAT haplotype was associated with a significantly increased risk of NPC as compared with the 499Ala/939Lys/PAT haplotype (OR=1.901;95% CI, 1.284 approximately 2.814, p=0.002). The interaction between the Val499Ala polymorphism and gender or smoking status did not been found in NPC risk.

CONCLUSIONS

Our data demonstrated that XPC 499Val allele and its haplotype were strongly associated with NPC, which indicated that Val499Ala polymorphism may be a contributing factor in the NPC development.

摘要

目的

鼻咽癌(NPC)是一种多因素疾病,遗传背景可能是关键的病因因素。着色性干皮病C互补组(XPC)主要参与DNA损伤修复,XPC基因中的序列变异可能调节DNA修复能力,进而导致个体对鼻咽癌的易感性。本研究旨在探讨中国人群中XPC基因Val499Ala、Lys939Gln、PAT多态性与鼻咽癌(NPC)遗传易感性之间的关联。

方法

我们采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,分析了153例鼻咽癌患者和168例年龄及性别匹配的对照人群中XPC基因的三种多态性。

结果

病例组和对照组之间XPC Val499Ala的基因型和等位基因分布存在显著差异。与非携带者相比,499Val等位基因携带者患鼻咽癌的风险显著增加(OR=1.603;95%CI,1.160约2.216,p=0.005)。与基因型分析结果一致,与499Ala/939Lys/PAT单倍型相比,499Val/939Lys/PAT单倍型与鼻咽癌风险显著增加相关(OR=1.901;95%CI,1.284约2.814,p=0.002)。未发现Val499Ala多态性与性别或吸烟状况之间在鼻咽癌风险上存在相互作用。

结论

我们的数据表明,XPC 499Val等位基因及其单倍型与鼻咽癌密切相关,这表明Val499Ala多态性可能是鼻咽癌发生的一个促成因素。

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