BER通路中XRCC1多位点单核苷酸多态性与新疆不同民族喉癌易感性相关性研究

王松; 胡斌; 雍军

doi:10.3969/j.issn.1007-3969.2015.02.007

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BER通路中XRCC1多位点单核苷酸多态性与新疆不同民族喉癌易感性相关性研究

更新时间：2025-12-31

- BER通路中XRCC1多位点单核苷酸多态性与新疆不同民族喉癌易感性相关性研究
- Studying on BER pathways of XRCC1 site SNP and laryngeal cancer susceptibility of different nations in Xinjiang
- 中国癌症杂志 2015年25卷第2期页码：119-128
- 作者机构：
  
  新疆医科大学第一附属医院耳鼻咽喉科,新疆,乌鲁木齐,830054
- 作者简介：
- 基金信息：
  
  新疆维吾尔自治区自然科学基金项目(2013211A098)。
- DOI：10.3969/j.issn.1007-3969.2015.02.007
  中图分类号：
- 网络出版：2015-05-13，
  
  纸质出版：2015-05-13
- 稿件说明：
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王松,胡斌,雍军,等. BER通路中XRCC1多位点单核苷酸多态性与新疆不同民族喉癌易感性相关性研究[J]. 中国癌症杂志, 2015, 25(2): 119-128.

王松, 胡斌, 雍军. Studying on BER pathways of XRCC1 site SNP and laryngeal cancer susceptibility of different nations in Xinjiang[J]. China Oncology, 2015, 25(2): 119-128.
王松,胡斌,雍军,等. BER通路中XRCC1多位点单核苷酸多态性与新疆不同民族喉癌易感性相关性研究[J]. 中国癌症杂志, 2015, 25(2): 119-128. DOI： 10.3969/j.issn.1007-3969.2015.02.007.

王松, 胡斌, 雍军. Studying on BER pathways of XRCC1 site SNP and laryngeal cancer susceptibility of different nations in Xinjiang[J]. China Oncology, 2015, 25(2): 119-128. DOI： 10.3969/j.issn.1007-3969.2015.02.007.

摘要

背景与目的：影响肿瘤遗传易感性的修复基因主要存在修复通路碱基切除修复(base excision repair，BER)途径，而X射线交错互补修复基因1(X-ray repair cross complementing group 1，XRCC1)是BER通路中的核心基因。近几年，国内外开展了许多有关基因多态性和喉癌易感性的研究。探讨BER通路DNA修复基因XRCC1多位点单核甘酸多态性与新疆不同民族喉癌易感性关系。方法：采用患者组与对照组的研究方法，选择58例喉癌(经病理证实为鳞状细胞癌)患者和120名体检正常的健康人对照，应用Multiplex SNaPshot技术检测DNA碱基切除修复基因XRCC1的Gln632Gln(rs3547)、Arg399Gln(rs25487)、Arg280His(rs25489)、Arg194Trp(rs1799782)位点单核苷酸多态在患者组和正常对照组中的分布情况。结果：喉癌患者组中XRCC1Arg280His(rs25489)C/T(杂合型)及T/T(突变型)基因型的比例与对照组比较差异无统计学意义(P0.05)。喉癌患者组中XRCC1的其余3个位点Gln632Gln(rs3547)C/T(杂合型)及T/T(突变型)基因型、Arg399Gln(rs25487)C/T(杂合型)及T/T(突变型)基因型、Arg194Trp(rs1799782)G/A(杂合型)及A/A(突变型)基因型的比例明显高于对照组(P＜0.01)。其中汉、维、哈3个民族患者组Gln632Gln(rs3547)C/T(杂合型)及T/T(突变型)基因型、Arg399Gln(rs25487)C/T(杂合型)及T/T(突变型)基因型、Arg194Trp(rs1799782)G/A(杂合型)及A/A(突变型)基因型比例显著高于对照组(P＜0.05)，携带(rs3547)C/T及T/T基因型、(rs25487)C/T及T/T基因型、(rs1799782)G/A及A/A基因型个体较携带XRCC1(rs3547)C/C基因型、(rs25487)C/C基因型、(rs1799782)G/G基因型的个体患喉鳞状细胞癌的风险升高了分别为0.96倍、1.74倍、1.39倍；1.47倍、1.32倍、0.77倍，1.49倍、1.51倍、1.56倍。结论：汉、维、哈3个民族的XRCC1 Gln632Gln、Arg399Gln、Arg280His、Arg194Trp位点的单核苷酸多态性可能与喉癌遗传性有关联且有差异，XRCC1基因中的Gln632Gln、Arg399Gln、Arg194Trp位点的突变将导致喉癌的发病风险升高。而XRCC1基因中的Arg280His位点突变与喉癌发病的差异无统计学意义，可能该位点的突变与喉癌发病无关。

Abstract

Background and purpose: Major repair genes that affect the tumor genetic susceptibility exists in repair pathways base excision repair (BER) approach

X-ray repair cross complementing group 1(XRCC1) gene

respectively is the core of BER pathway. At home and abroad in recent years

has carried out many studies of genetic polymorphism and laryngeal cancer susceptibility. Researching on the base excision repair (BER) pathway of DNA repair gene XRCC1 bases mononuclear nucleotide polymorphism and the relationship between different ethnic groups laryngeal cancer susceptibility in xinjiang. Methods: A case-control study was performed on 58 patient with laryngeal squamous cell carcinoma and 120 random healthy control group. Multiplex SNaPshot technic was used to detect DNA base excision repair gene XRCC1 Gln632Gln (rs3547)

Arg399Gln (rs25487)

Arg280His (rs25489)

Arg194Trp (rs1799782) loci single nucleotide polymorphism distribution in the case group and normal control group. Results: Three sites of the rest of the cases of XRCC1 Gln632Gln (rs3547) C/T (hybrid) and T/T (mutant) genotype

Arg399Gln (rs25487) C/T (hybrid) and T/T (mutant) genotype

Arg194Trp (rs1799782) G/A (hybrid) and A/A (mutant) genotype is notably higher than that of control group (P0.01). Gln632Gln (rs3547) C/T (hybrid) and T/T (mutant) genotype

Arg399Gln (rs25487) C/T (hybrid) and T/T (mutant) genotype

Arg194Trp (rs1799782) G/A (hybrid) and A/A (mutant) genotype ratio is significantly higher than control group (P0.05) in cases of Han

Uygur and Kazakh nations

carrying (rs3547) C/T and T/T genotype

(rs25487) C/T and T/T genotype

(rs1799782) G/A and A/A genotype individual risk of laryngeal squamous cell carcinoma are added to the 0.96

1.74 and 1.39 times; 1.47

1.32 and 0.77 times; 1.49

1.51 and 1.56 times than XRCC1 (rs3547) C/C genotype

(rs25487) C/C genotype

(rs1799782) G/G genotype. Conclusion: In the 3 nations

XRCC1 Gln632Gln

Arg399Gln

Arg280His and Arg194Trp loci polymorphism may be associated with laryngeal cancer genetic and there are differences

XRCC1 Gln632Gln

Arg399Gln

Arg194Trp locus mutation will lead to an elevated risk of throat cancer. XRCC1 Arg280His locus mutation has no statistically significant difference with the onset of throat cancer

may have nothing to do with the onset of laryngeal cancer on the site of mutation.

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