XPC rs2228000位点多态性与乳腺癌发病的关系

Relationship of XPC rs2228000 polymorphisms and breast cancer

目的探讨DNA损伤修复基因着色性干皮病基因组C(XPC)rs2228000位点多态性与乳腺癌发病的相关性。方法选取女性乳腺癌患者562例(乳腺癌组)、女性体检健康者572名(正常对照组)。收集所有研究对象的一般资料和乳腺癌患者的临床病理资料。采用聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)检测XPC基因。采用Logistic回归分析评估XPC rs2228000位点多态性与乳腺癌发病的关系。结果乳腺癌组XPC rs2228000位点CC基因型(野生型)、CT基因型(杂合型)和TT基因型(纯合型)的分布频率分别为33.2%、50.9%、15.9%,正常对照组分别为43.2%、48.4%、8.4%,2个组各基因型的分布频率差异有统计学意义(χ^(2)=14.59,P<0.01);2个组之间等位基因C和T的分布频率差异有统计学意义(χ^(2)=10.5,P<0.01)。Logistic回归分析结果显示,携带T等位基因的个体乳腺癌发生风险是携带C等位基因个体的1.52倍[比值比(OR)值=1.52,95%可信区间(CI)为1.37~1.94]。雌激素受体(ER)阳性、病理类型为浸润性导管癌的乳腺癌患者XPC rs2228000位点基因型分布分别与ER阴性、其他病理类型的患者比较,差异均有统计学意义(P<0.05);不同年龄、绝经状态、孕激素受体(PR)表达、BRCA1基因表达的乳腺癌患者之间XPC rs2228000位点基因型分布差异均无统计学意义(P>0.05)。结论XPC rs2228000位点多态性与乳腺癌发病有一定关系。

Objective To study the relationship between DNA damage repair gene xeroderma pigmentosum group C(XPC)rs2228000 polymorphisms and breast cancer risk.Methods Totally,562 breast cancer patients and 572 healthy subjects were enrolled.The general data of all the subjects and the clinicopathologic data of breast cancer patients were collected.Polymerase chain reaction(PCR)-restriction fragment length polymorphism(RFLP)was used to determine XPC.Using Logistic regression analysis,the correlation between XPC rs2228000 polymorphisms and breast cancer was evaluated.Results The distribution frequencies of XPC rs2228000 CC genotype(wild type),CT genotype(heterozygous type)and TT genotype(homozygous type)in breast cancer group were 33.2%,50.9%and 15.9%,respectively.Those in control group were 43.2%,48.4%and 8.4%,respectively.There was statistical significance in the frequency distribution of each genotype between the 2 groups(χ^(2)=14.59,P<0.01).The frequencies of allele C and T had statistical significance between the 2 groups(χ^(2)=10.5,P<0.01).Individuals with allele T had a 1.52 times greater risk than those with allele C[odds ratio(OR)=1.52,95%confidence interval(CI)1.37-1.94].The XPC rs2228000 genotype distribution in breast cancer patients with estrogen receptor(ER)positivity and invasive ductal carcinoma had statistical significance compared with those with ER negative and other pathological types(P<0.05).There was no statistical significance in XPC rs2228000 genotype distribution among breast cancer patients with different ages,menopausal status,progesterone receptor(PR)expression and BRCA1 gene expression(P>0.05).Conclusions XPC rs2228000 polymorphisms are related to breast cancer.