雌激素α受体XbaⅠ和PvuⅡ基因多态性与乳腺癌相关性的研究  

The XbaⅠ and PvuⅡ gene polymorphisms of the estrogen receptor α gene in Chinese women with breast cancer

作　　者：陆旭[1] 李波[1] 韦军民[1] 华彬[1] 

机构地区：[1]北京医院普外科,100730

出　　处：《中华外科杂志》2005年第5期290-293,共4页Chinese Journal of Surgery

摘　　要：目的探讨中国北方地区汉族人群中的雌激素a受体(ERa)的Xba Ⅰ和Pvu Ⅱ基因多态性与乳腺癌的关系。方法选取138例女性乳腺癌患者和140例年龄、性别相匹配的健康对照，应用RFLP方法，对其ERa基因的XbaⅠ和PvuⅡ基因多态性进行鉴定；分析XbaⅠ和PvuⅡ基因多态性与罹患乳腺癌危险性的关系。结果正常中国北方汉族人群：ERa的XbaⅠ和PvuⅡ等位基因频率分别为X：28．9％，P：39．6％；XX和PP基因型频率分别是4．3％和15．0％。乳腺癌组和对照组的Xx基因型频率分别为34．8％和49．3％(P=0．013)，X等位基因携带者(XX和Xx)频率分别为39．1％和53．6％(P=0．016)。与xx基因型相比，杂合子Xx基因型和X等位基因携带者(XX和Xx)的OR分别为0．538(95％CI：0．330～0．879)和0．557(95％CI：0．346～0．897)，二者患乳腺癌的危险性降低。这种差异在绝经后的女性中尤为显著，OR值分别为0．366(95％CI：0．161～0．834)和0．37l(95％CI：0．167—0．823)。PvuⅡ基因型的分布在乳腺癌组和对照组之间没有差异，对绝经前后的患病率也没有明显影响。结论ERa的XbaⅠ基因多态性影响中国汉族女性罹患乳腺癌的危险性，尤其是对绝经后的妇女，X等位基因具有降低乳腺癌危险的作用。ERa的：PvuⅡ基因多态性对女性罹患乳腺癌的危险性没有明显影响。Objective To investigate the associations of the XbaⅠ and PvuⅡ gene polymorphisms in estrogen receptor α (ERα) gene and breast cancer risk. Methods Using the method of restrictive fragment length polymorphism, the XbaⅠ and PvuⅡ genotypes of ERα gene were examined in 138 female breast cancer patients and 140 healthy control subjects that age and sex matched. Analyses stratified by menopausal status were conducted to check the associations of the XbaⅠ and PvuⅡ gene polymorphisms of ERα gene and breast cancer risk. Results The frequencies of the XbaⅠ and PvuⅡ alleles of ERα gene were 28.9% for XbaⅠ X allele and 39.6% for P PvuⅡ allele, respectively, in healthy Han Chinese. The frequencies of XX and PP genotypes were 4.3% and 15.0%, respectively. The frequencies of Xx genotype and carrier with X allele (XX+Xx) in breast cancer patients were 34.8% and 39.1%, respectively, significantly lower than that in controls with 49.3% and 53.6%, respectively (P=0.013 and P=0.016, respectively). The odds ratio (OR) for heterozygous Xx and carriers with X allele (XX+Xx) were 0.538 (95% CI: 0.330-0.879) and 0.557 (95%CI: 0.346-0.897), respectively, decreased the breast cancer risk compared with the homozygous xx genotype. The decreases in the OR showed to be more significantly in the postmenopausal women, OR were 0.366 (95%CI: 0.161-0.834) and 0.371 (95%CI: 0.167-0.823), respectively. No significant difference was showed in the PvuⅡ genotype distribution between patients and controls. Conclusions The XbaⅠ gene polymorphism of ERα gene was associated with breast cancer risk, more significantly in postmenopausal women. The XbaⅠ X allele could decrease the risk of breast cancer. No apparent effect of the PvuⅡ gene polymorphisms of ERα gene was identified.

关 键 词：乳腺癌 基因多态性 ERA基因 X基因 雌激素 受体 危险性 汉族人群 中国汉族 等位基因 

分 类 号：R737.9[医药卫生—肿瘤] R541.4[医药卫生—临床医学]