广东汉族女性TRIM31基因单核苷酸多态性与乳腺癌易感性的相关性研究

目的:探讨TRIM31(Tripartite motif containing 31)基因rs1116221位点单核苷酸多态性(Single nucleotide poly-morphisms,SNP)与广东汉族女性乳腺癌易感性的关系。方法:利用MassARRAY-IPLEX SNP分型技术,对南方医科大学南方医院的216例广东汉族乳腺癌患者及216例同期健康体检者TRIM31基因的多态性位点rs1116221进行基因分型,采用χ2检验方法统计分析病例组与对照组的基因型分布频率的差异,采用非条件Logistic回归计算比数比(Odds ratio,OR)和95%可信区间(Confidence interval,CI)对该位点多态性与乳腺癌易感性的相关性进行评价。在此基础上,在病例组中根据临床雌激素受体(Estrogen receptor,ER)和孕激素受体(Progesterone receptor,PR)的免疫组化结果进一步分层分析。结果:TRIM31基因位点rs1116221在广东汉族女性中存在CC、CT、TT 3种多态性,病例-对照分析显示,该位点基因型分布频率在两组中无统计学差异(P>0.05);进一步分层分析发现,该位点的基因型分布在ER阳性/阴性(+/-)分组中存在差异,且具有统计学意义(P=0.034),携带杂合基因型CT的个体更倾向于ER(+)乳腺癌(OR=2.67,95%CI:1.02～7.02);而在PR阳性/阴性(+/-)分组中无统计学差异。结论:基因TRIM31的rs1116221位点多态性与乳腺癌患病风险之间无明显相关性,但该位点的杂合基因型与乳腺癌ER阳性(+)明显相关。

Association between single nucleotide polymorphisms in TRIM31 gene and susceptibility of breast cancer in Guangdong women of Han Nationality

Objective:To investigate whether the single nucleotide polymorphism(SNP) in TRIM31 gene is associated with susceptibility of breast cancer in Guangdong women of Han Nationality.Methods:The polymorphism of SNP rs1116221 in TRIM31 gene was inspected in 216 breast cancer patients and 216 healthy controls that collected coinstantaneously from Nanfang hospital,Southern Medical University,via MassARRAY-IPLEX platfm.Data was analyzed by Chi-square test between case and control groups.Odds ratio(OR) and 95% confidence interval(95% CI) were calculated by unconditional logistic regression to analyze the associations between the susceptibility of breast cancer and genotypes,further analysis was carried based on the immunohistochemical results of estrogen receptor(ER) and progesterone receptor(PR).Results:There were three genotypes for rs1116221 of gene TRIM31 in Guangdong women of Han nationality,CC CT and TT.The genotype frequencies were not statistically different between case and control groups(P>0.05).But in ER(+/-) groups,heterozygous genotype CT was related to breast cancer with ER(+)(OR=2.67,95%CI:1.02-7.02,P=0.034).Conclusion:There is no significant association between the polymorphism of rs1116221 in gene TRIM31and susceptibility of breast cancer in Guangdong women of Han Nationality,however the heterozygous genotype CT is associated with ER(+).