B7-H4基因多态性与乳腺浸润性导管癌预后的相关性研究

目的探讨B7-H4基因rs10754339、rs10801935和rs3738414等单核苷酸多态性（SNP）位点多态性与黑龙江省妇女乳腺浸润性导管癌预后的相关性。方法取280例乳腺浸润性导管癌患者的外周血提取基因组DNA，利用聚合酶链式反应限制性片段长度多态性（PCR．RFLP）技术进行B7．H4单核苷酸多态性检测，引用统计学软件分析基因多态性与患者临床指标（包括肿瘤大小，淋巴结转移，以及雌激素受体、孕激素受体和P53基因的表达）间的关系（卡方检验计算P值），进而确定该基因与黑龙江省汉族妇女乳腺癌预后的相关性。结果B7-H4基因的rs10754339中，AA和AG基因型发生频率在雌激素受体表达阳性和阴性患者中有统计学差异（Х^2=4．06，P〈0．05；Х^2=3．97，P〈0．05），AA基因型和G等位基因发生频率在孕激素受体表达阳性和阴性患者中有显著差异（Х^2=4．74，P〈0．05；Х^2=5．30，P〈0．05）。rs10801935中，AA基因型和C等位基因发生频率在孕激素受体表达阳性和阴性患者中有显著差异（Х^2=5．36，P〈0．05；Х^2=5．90，P〈0．05），而AC基因型发生频率在P53基因表达阳性和阴性患者中有显著差异（Х^2=5．82，P〈0．05）。结论B7-H4基因多态性与乳腺浸润性导管癌患者雌激素受体，孕激素受体及P53基因的表达有关联，与乳腺癌患者的预后有一定相关性。

Relationship between the polymorphisms of B7-H4 gene and the prognosis of breast infiltrative ductal carcinoma in Chinese Han females

Objective To investigate the association between the polymorphisms of B7-H4 gene (in cluding rsl0754339, rs10801935 and rs3738414) and the prognosis of infiltrating ductal carcinoma in Chinese women of Heilongjiang province. Methods Two hundreds and eighty Chinese females with infiltrative ductal carcinoma were included in the study. The single nucleotide polymorphisms (SNPs) of rsl0754339, rsl0801935 and rs3738414 in B7-H4 gene were genotyped by PCR-RFLP. The association of the SNPs of B7 H4 gene with the clinical features of breast infiltrating ductal carcinoma (including tumor size, lymph node in volvement , and the expression status of ER, PR and P53) were analyzed through statistical software (the P val ue was calculated using chi-square test) , and the relevance between B7-H4 gene and the prognosis of breast cancer in Chinese Han women of Heilongjiang province was further determined. Results In rs10754339, the frequencies of AA and AG genotypes were significantly different between the ER positive and negative patients (χ~2 =4.06, P<0.05;χ~2 =3.97, P<0.05, respectively) ; the frequencies of AA genotype and G allele were quite different in patients with different PR status (χ~2 =4.74, P<0.05;χ~2=5.30, P<0.05, respectively). In rs10801935, there were significantly differences of the AA genotype and C allele frequencies in patients with different PR status ( χ~2 =5.36, P< 0.05; χ`2 = 5.90, P<0.05, respectively), while the frequency of AA gen otype was significantly different in patients with different P53 status ( χ~2 = 5.82, P <0.05). Conclusion The polymorphisms of B7-H4 gene appear to be associated with the expression of ER, PR and P53 gene in the breast infiltrative ductal carcinoma patients, which suggests that there may be some relationship between the polymorphisms of BT-H4 gene and the prognosis of breast eancer in the population of Heilongjiang province, China.