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目的探讨中国北方地区汉族人群中的雌激素α受体(ERα)的XbaⅠ和PvuⅡ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ERα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ERα的XbaⅠ和PvuⅡ等位基因频率分别为X289%,P396%;XX和PP基因型频率分别是43%和150%。乳腺癌组和对照组的Xx基因型频率分别为348%和493%(P=0013),X等位基因携带者(XX和Xx)频率分别为391%和536%(P=0016)。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0538(95%CI0330~0879)和0557(95%CI0346~0897),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0366(95%CI0161~0834)和0371(95%CI0167~0823)。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ERα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。ERα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 relationship between Xba Ⅰ and Pvu Ⅱ gene polymorphisms of estrogen receptor α (ERα) and breast cancer in Han Chinese population in northern China. Methods 138 cases of female breast cancer patients and 140 age and sex matched healthy controls were selected. The RFLP method was used to identify the polymorphisms of Xba Ⅰ and Pvu Ⅱ gene of ERα gene. The polymorphisms of Xba Ⅰ and Pvu Ⅱ gene were compared with that of breast cancer patients Cancer risk. Results The frequencies of XbaⅠ and PvuⅡ alleles of ERα in Chinese Han population in north China were respectively X289% and P396%. The frequencies of XX and PP genotypes were 43% and 150% respectively. The frequencies of Xx genotypes in breast cancer group and control group were 348% and 493%, respectively (P = 0013). The frequencies of X allele carriers (XX and Xx) were 391% and 536%, respectively. ORs for heterozygous Xx genotypes and X allele carriers (XX and Xx) were 0538 (95% CI0330 to 0879) and 0557 (95% CI0346 to 0897), respectively, compared to the xx genotype, both of which had breast The risk of cancer is reduced. This difference was particularly significant in postmenopausal women with odds ratios of 0366 (95% CI0161 to 0834) and 0371 (95% CI0167 to 0823), respectively. There was no difference in the distribution of PvuII genotype between breast cancer group and control group, and no significant effect on pre-menopausal prevalence. Conclusion The polymorphism of Xba Ⅰ gene of ERα affects the risk of breast cancer in Chinese Han women, especially for women with postmenopausal women, X allele has the potential to reduce the risk of breast cancer. The PvuII gene polymorphism of ERa had no significant effect on the risk of breast cancer in women.