XRCC3基因Thr241Met(rs861539)位点单核苷酸多态性与鼻咽癌的相关性

目的:研究XRCC3基因Thr241Met (C/T,rs861539)位点多态性与广东鼻咽癌的相关性.方法:应用PCR方法对127例广州鼻咽癌患者和117例健康对照人群的DNA标本rs861539位点进行扩增、纯化及测序,再结合人群临床资料进行统计学分析.结果:rs861539 C＞T,其中杂合型C/T基因型频率在对照组中分布较高(OR=0.473,95％ CI=0.244～ 0.917,P＜0.05);经年龄及性别分层分析,杂合子在年龄≤30岁(OR＝0.071,95％ CI=0.007～0.722,P＜0.05)以及男性(OR=0.469,95％ CI=0.232～0.947,P＜0.05)人群中在对照组分布较高;而在年龄＞ 30岁以及女性人群中两组间分布均无统计学差异.纯和突变型T/T基因型在两组间分布差异无显著性(OR=1e9,95％ CI=0～∞,P＞0.05),经年龄及性别分层分析,在两组间仍无统计学差异.结论:XRCC3基因Thr241Met (C/T,rs861539)基因多态性可能与鼻咽癌易感性无显著相关性.

The association between single nucleotide polymorphisms of XRCC3 gene Thr241Met(rs861539) site and nasopharyngeal carcinoma susceptibility

Objective The aim of this paper was to study the association between single nucleotide polymorphisms(SNP) of XRCC3 gene Thr241Met(rs861539) site and the susceptibility of nasopharyngeal carcinoma in Cantonese.Methods A total of 127 NPC patients and 117 age-matched and gender-matched healthy controls were enrolled in this study.C/T genotyping of the SNP locus rs861539 in XRCC3 gene was performed by PCR and DNA sequencing of the PCR products.Results The genotype frequency of heterozygote C/T was higher in healthy individuals(OR = 0.473,95% CI = 0.244-0.917,P < 0.05).And the difference only existed in age≤30(OR = 0.071,95% CI = 0.007-0.722,P < 0.05) or male group(OR = 0.469,95% CI = 0.232-0.947,P < 0.05)when analyzing after stratification by age and gender.No association was found for the homozygote variant T/T(OR = 1e9,95% CI = 0-∞,P > 0.05) in two groups.Conclusion The SNP of XRCC3 gene Thr241Met(rs861539) site may be irrelevant to the genetic susceptibility of NPC in Cantonese.