XRCC1基因多态性与非霍奇金淋巴瘤相关性研究  

Association of XRCC1 Genetic Polymorphism with Susceptibility to Non-Hodgkin's Lymphoma

作　　者：李素霞[1] 朱宏丽[1] 郭搏[1] 杨洋[1] 王红艳[2] 孙敬芬[2] 曹永彬[3] 

机构地区：[1]解放军总医院老年血液科,北京100853 [2]解放军总医院血液科,北京100853 [3]解放军总医院第一附属医院血液科,北京100048

出　　处：《中国实验血液学杂志》2014年第4期982-987,共6页Journal of Experimental Hematology

基　　金：解放军总医院南楼青年创新基金(NQ201107)

摘　　要：本研究探讨DNA损伤修复基因X线修复交叉互补基因1(X-ray repair cross complementing group 1,XRCC1)单核苷酸多态性与非霍奇金淋巴瘤(non-Hodgkin's lymphoma,NHL)及其亚型发病风险的关系。以282例NHL患者和231例正常对照者为研究对象,采用SNaPshot方法检测XRCC1的3个基因rs25487、rs25489、rs1799782的基因多态性,分析其在NHL患者和正常对照组中基因型和等位基因频率分布的差异,根据遗传隐性、显性和加性模型,采用Logistic回归分析计算各个SNP的等位基因的比值比(Odd ratio,OR)值和95%置信区间(confidence interval,CI)。同时采用Logistic回归分析对3个SNP的组合基因型中各个突变组合基因型进行了比较。结果显示,XRCC1的3个SNP(rs25487、rs25489、rs799782)在NHL患者和正常对照组中基因型和等位频率分布无统计学差异。XRCC1基因7个带有突变的组合基因型相对于参考组合基因型在对照组和NHL患者组患病风险无显著差异。进一步的NHL亚型分析结果显示,对于XRCC1399-280-194基因的突变组合基因型VT-WT-WT相对于参考组合基因型(3种野生型)患T细胞性NHL风险显著降低(OR:0.21;95%CI(0.06-0.8);P=0.022),对于XRCC1399-280-194基因的突变组合基因型WT-VT-WT相对于参考组合基因型患滤泡性型淋巴瘤风险显著增加(OR:15.23;95%CI(1.69-137.39);P=0.015),该结果仍需进一步扩大研究证实。结论:DNA损伤修复基因XRCC1的3个SNP(rs25487、rs25489、rs1799782)基因多态性与NHL及其亚型的发病无明显相关性。XRCC1的3个SNP突变组合基因型与NHL的发病无明显相关性,XRCC1的3个SNP突变组合基因型对NHL不同亚型发病风险的影响仍需进一步扩大研究证实。The purpose of this study was to explore the association between X-ray repair cross-complementing group 1 （XRCC1） gene polymorphism and non-Hodgkin＇ s lymphoma risk. A total of 282 non-Hodgkin＇ s lymphoma（NHL） patients and 231 normal controls were used to investigate the effect of three XRCC1 gene polymorphisms （rs25487, rs25489, rs1799782） on susceptibility to non-Hodgkin＇s lymphoma. Genotyping was performed by using SNaPshot method. All statistical analyses were done with R software. Genotype and allele frequencies of XRCC1 were compared between the patients and controls by using the chi-square test. Crude and adjusted odd ratios and 95% confidence intervals were calculated by using logistic regression on the basis of genetic different models. For four kinds of NHL, subgroup analyses were also conducted. Combined genotype analyses of the three XRCC1 polymorphisms were also done by using logistic regression. The results showed that the variant genotype frequency was not significantly different between the controls and NHL or NHL subtype cases. Combined genotype analyses of XRCC1 399-280-194 results showed that the combined genotype was not associated with risk of NHL overall, but the VT-WT-WT combined genotype was associated with the decreased risk of T-NHL （ OR： 0. 21 ; 95 % CI （0.064）. 8 ） ; P = 0.022）, and the WT- VT-WT combined genotype was associated with the increased risk of FL（ OR： 15.23; 95% CI （1.69-137.39） ; P = 0. 015）. It is concluded that any studied polymorphism （rs25487, rs25489, rs1799782） alone was not shown to be related with the risk of NHL or each histologic subtype of NHL. The combined genotype with mutation of three SNP of XRCC1 was not related to the risk of NHL. However, further large-scale studies would be needed to confirm the associa- tion of decreased or increased risk for T-NHL and FL with the risk 3 combined SNP mutants of XRCC1 polymorphism.

关 键 词：XRCC1 非霍奇金淋巴瘤 基因多态性 单核苷酸 

分 类 号：R733.1[医药卫生—肿瘤]