云南省彝族及汉族乳腺癌遗传易感性与CYP1A1基因多态性的研究

Relationship between Msp Ⅰ polymorphism of CYP1A1 gene and susceptibility to breast cancer in Yi nationality in Yunnan province

目的:探讨云南省彝族与汉族乳腺癌易感性与CYP1A1基因MspⅠ位点多态性的关系。方法:采用聚合酶链反应-限制性片段长度多态性PCR-RFLP技术,对云南省肿瘤医院51例彝族乳腺癌患者及60例健康女性人群,235例汉族乳腺癌患者及250例健康女性人群的CYP1A1基因3′端限制性内切酶MspⅠ位点基因的基因多态性进行分析。结果:彝族乳腺癌组C等位基因分布频率(51.0%)明显高于对照组(33.3%),差异有统计学意义(P<0.05)。3种基因型分布频率与对照组相比,差异有统计学意义(P<0.05);TC、CC基因型患乳腺癌的危险度分析OR(95%CI)分别是TT基因型的1.19和1.95倍。与彝族人群相比,汉族人群乳腺癌组C等位基因分布频率(49.1%)略高于对照组(46.0%),差异无统计学意义(P>0.05)。3种基因型分布频率与对照组相比,差异无统计学意义(P>0.05)。结论:云南省彝族乳腺癌发病率可能与CYP1A1基因型有关,基因突变增加了患乳腺癌的风险,而汉族乳腺癌发病率与CYP1A1基因型无关。

Objective To explore the relationship between Msp I polymorphism of CYP1A1 gene and susceptibility to breast cancer in Yi nationality in Yunnan province. Methods The gene polymorphism of restriction enzyme of 3＇-terminal of CYP1A1 was detected by PCR-RFLP in 60 healthy Yi women, 51 Yi women with breast cancer, 235 healthy Han women, and 250 Han women with breast cancer. Results The distribution frequency of CYP1A1-Msp I genotypes was significantly higher in Yi women with breast cancer （51.0%） than in the healthy Yi women （33.3%） （P 〈 0.05）, an the allele C had a higher frequency in women with breast cancer than in healthy controls （P 〈 0.05）. Significant differences of frequencies were found in genotypes TT, TC and CC between women with breast cancer and healthy controls （P 〈 0.05）. The risks of TC and CC for breast cancer were 1.19 and 1.95 folds respectively to TT genotype. But as compared with Yi women, the distribution frequency of CYP1A1-Msp I genotypes did not differ between Han women with breast cancer and in the healthy control （P 〉 0.05）, and there were no differences in three genotype frequencies （P 〉 0.05）. Conclusions Gene polymorphism of CYP1AI genotypes may be associated with the risk of breast cancer in Yi nationality but not in Han nationality in Yunnan. The mutation of CYP1A1 gene may increase the incidence of breast cancer in Yi nationality.