雌激素相关基因及生殖因素对乳腺癌协同作用

目的研究CYP1A1 MspⅠ，ERα PvuⅡ，ERα XbaⅠ基因多态性与生殖、生育因素在乳腺癌发生中的协同作用。方法本研究样本来自1999年1月-2001年4月，在上海市进行的以人群为基础的乳腺癌病例对照研究。采用PCR-限制性酶切长度多态性法（PIER—RFLP）对282例乳腺癌病例和298例口腔黏膜细胞对照标本进行3个候选基因位点的检测，拟合Logistic回归模型，估计基因多态与生殖、生育因素对乳腺癌协同作用OR值和95％CI，并采用Rothman方法对基因一环境的协同作用进行估计。结果良性乳腺疾病史与CYPIA1 MspⅠ多态存在正相加协同作用。与基准组比较，OR为5．66（95％CI=3．28-9．76），协同作用指数S=2．05，协同作用归因比AP=0．42，经检验差异有统计学意义（P〈0．05）。未发现其他生殖、生育因素与3个基因位点有显著的协同作用。结论良性乳腺疾病史与CYP1A1 MspⅠ基因之间存在增加乳腺危险的协同作用。

Relationship between CYP1A1 polymorphisms and invasion and metastasis of breast cancer

Objective:To investigate the relationship between CYPIA1 genetic polymorphisms and the invasion and metastasis of breast cancer.Methods:The CYP1A1 gene polymorphism(an T-C transversion at nucleotide position 3801)was detected by the polymerase chain reaction and restriction fragment length polymorphism in 80 cases with breast cancer and 60 samples of normal breast tissue.The difference in genotypic distribution frequency between the groups,the correlation between the genotypes and the factors related to prognosis were analyzed.Results:The incidence of homozygous and variant genotypes had no difference between the breast cancer group and controls group(P=0.746).The proportion of variant genotype increased as clinical stage(P=0.006)advanced,as well as with increased numbers of lymph node metastases(P=0.010).Conclusions:In patients with breast cancer there is a correlation between the CYP1A1 CC allele and some factors indicating poor prognosis,including more lymph node metastases as well as a more advanced clinical stage.

CYP1A1-Hinc和GSTT1基因遗传多态性与原发性痛经关系分析

目的 研究原发性痛经的遗传易感性。方法 收集某纺织厂 499名新婚女工的资料 ,采用L ogistic回归分析 ,评价 CYP1A1- Hinc 和 GSTT1多态性与重度原发性痛经的关系。结果 在未调整环境因素时 CYP1A1- Hinc 变异基因型虽对痛经有缓解趋势 ,但差异无显著性 (CYP1A1- Hinc :OR=0 .6 495 % CI:0 .35～ 1.17)。而 GSTT1变异基因型可增加重度原发性痛经危险性 (GSTT1:OR=1.83,95 % CI:1.0 4～ 3.2 1)。调整潜在环境影响因素后 ,CY1A1- Hinc 变异基因型显示对原发性痛经有缓解趋势(CYP1A1- Hinc :OR=0 .5 8,95 % CI:0 .31～ 1.0 8) ,但差异仍无显著性。而 GSTT1变异基因型仍显示可增加重度原发性痛经的危险性 (GSTT1:OR=2 .0 1,95 % CI:1.12～ 3.6 2 )。