A Study On The Relationship Between Xba Ⅰ And PvuⅡ Polymorphism Of ERα Gene And Breast Cancer

[Objective] To study the relationship of the Xba I and PvuⅡgene polymorphisms of estrogen receptor a gene and breast cancer risk in Guangxi women, and more study its with different clinical features and pathological characteristics, we can collect more researchdata on the relationship between Xba I and PvuⅡpolymorphism of ERa gene and breast cancer.[Methods] 128 female patients with breast cancer,64 patients with benign breast diseases and 130 healthy controls were chosen from the First Affiliated Hospital of Guangxi Medical University from November 2009 to December 2010, the subjects'DNA was extracted from lml peripheral blood of themselves in the morning. Using PCR-RFLP analysis method, forward primer and reward primer were designed and a part of the ERa gene was specifically amplified. And then, separately adding endonuclease Xba I and PvuⅡin the RCR products, after agarose gel electrophoresis the genotype of each research subjects was observed and recorded under UV lamp. The subjects were taken randomly for repeat trials, and results of the two trials were checked for consistency.All the researchdata was managed and analyzed statistically with Excel 2003 and SPSS 17.0 software. Chi-square test was used to analyse the geno type frequencies and allele frequency and Hardy-Weinberg equilibrium. OR and 95%CI were used to judge the relative risk. P<0.05 means that the difference was statistical significance.[Results] the Xba I gene polymorphisms of estrogen receptor a gene divides into 2 alleles and 3 genotype.The 2 alleles are X,x alleles。The 3 genotypes are XX, Xx, xx genotypes. the PvuⅡgene polymorphisms of estrogen receptor a gene divides to 2 alleles and 3 genotypes。The 2 alleles are P,p alleles。The 3 genotypes are PP, Pp, pp genotypes.The frequency distributions of X allele and x allele of Xba I polymorphic points of ERa gene for the control group were 0.1923 and 0.8077, those for the benign breast disease group were 0.2923and 0.7077, and those for the breast cancer group were 0.2773 and 0.7227. The frequency distributions of P allele and p allele of Pvu II polymorphic points of ERa gene for the control group were 0.1923 and 0.8077, those for the benign breast disease group were 0.4692 and 0.5308, and those for the breast cancer group were 0.4258 and 0.5742. The distribution of Xba I and PvuⅡgene frequencies of gene ERa of the control group, benign breast disease group, and breast cancer group had no difference from the expected frequencies and accorded with Hardy-Weinberg equilibrium. The three groups can represent the crowd where they come from.The frequencies of Xx genotype and X gene carrier (XX+Xx) of the breast cancer group were higher than the control group, there was significance difference between the two groups (P<0.05); compared with xx genotype, the value OR of Xx genotype and X gene carrier (XX+Xx) were 1.865 (95%CI: 1.087～3.200) and 1.894(95%CI:1.115～3.065), so the risk of taking the breast cancer for the two genotypes was increasing. The relationship of the PvuⅡgene polymorphisms of estrogen receptor a gene in the control group and the breast cancer group, there was no significance difference between the two groups (P>0.05).The relationship of the XbaⅠand PvuⅡgene polymorphisms of estrogen receptor a gene in the control group and the benign breast disease group, there was no significance difference between the two groups (P>0.05).The frequencies of Xx genotype and X gene carrier (XX+Xx) of the benign breast disease group were higher than the control group, there was significance difference between the two groups (P<0.05); compared with xx genotype, the value OR of Xx genotype and X gene carrier (XX+Xx) were 2.265 (95%CI: 1.190～4.309) and 2.161(95%CI:1.175～3.975), so the risk of taking the benign breast disease for the two genotypes was increasing. The relationship of the Pvu II gene polymorphisms of estrogen receptor a gene in the control group and the breast cancer group, there was no significance difference between the two groups (P> 0.05).In the breast cancer group studying the relationship of the Xba I and Pvu II gene polymorphisms of estrogen receptor a gene and the clinical pathological characteristics of the breast cancer group showed that the Xba I gene polymorphisms of estrogen receptor a gene is connected with nationality of the breast cancer patient. The frequency of X gene carrier (XX+Xx) of the Zhuang breast cancer patient were higher than the Han, there was significance difference between the two groups (P< 0.05), the value OR of X gene carrier (XX+Xx) was 2.449 (95%CI:1.100～5.455), indicating that female X gene carrier (XX+Xx) of the Zhuang breast cancer patient was at higher breast cancer risk than the Han breast cancer patient. the PvuⅡgene polymorphisms of estrogen receptor a gene is connected with nationality of the breast cancer patient.The frequency of pp genotype of the Zhuang breast cancer patient were lower than the Han, there was significance difference between the two groups (P<0.05), the value OR of pp genotype was 0.311 (95%CI:0.097～0.998), indicating that female pp genotype of the Han breast cancer patient was at higher breast cancer risk than the Zhuang breast cancer patient.Our study didn't discover the relationship of the Xba I and Pvu II gene polymorphisms of estrogen receptor a gene and the age of breast cancer patient, diameter of the tumor, lymph node metastasis, P53, c-erbB-2, ER, and PR level to taking breast cancer.the combination of XbaⅠand PvuⅡgene polymorphisms of estrogen receptor a gene divides into 9 genotypes, and there are XXPP, XPpp, XXpp, XxPP, XxPp, Xxpp, xxPP, xxPp, xxpp genotypes. Making the contrast of the combination of the XbaⅠand PvuⅡgene polymorphisms of estrogen receptor a gene in the control group, the benign breast disease group, the breast cancer group showed that The frequencies of xxpp genotype of the benign breast disease group was higher than the control group, there was significance difference between the two groups (P<0.05); compared with others genotypes, the value OR of xxpp genotype was 0.469 (95%CI:0.235～0.935), so the risk of taking the benign breast disease for this genotypes was decreasing. The contrast of the combination of the XbaⅠand PvuⅡgene polymorphisms of estrogen receptor a gene in the control group and the breast cancer group, there was no significance difference between the two groups (P>0.05). The contrast of the combination of the XbaⅠand PvuⅡgene polymorphisms of estrogen receptorαgene in the benign breast disease group and the breast cancer group, there was no significance difference between the two groups (P>0.05).[Conclusion]1. There is a relationship of the XbaⅠgene polymorphisms of estrogen receptor a gene and breast cancer risk in Guangxi.There isn't a relationship of the PvuⅡgene polymorphisms of estrogen receptor a gene and breast cancer risk in Guangxi. In the female of Guangxi region, Xx genotype and X gene carrier (XX+Xx) is at higher breast cancer risk.2. Female X gene carrier (XX+Xx) of the Zhuang breast cancer patient was at higher breast cancer risk than the Han breast cancer patient. Female pp genotype of the Han breast cancer patient was at higher breast cancer risk than the Zhuang breast cancer patient.3. There is a relationship of the Xba I and PvuⅡgene polymorphisms of estrogen receptor a gene and benign breast disease risk in Guangxi. In the female of Guangxi region, Xx genotype and X gene carrier (XX+Xx) is at higher benign breast disease risk.xxpp genotype is at lower benign breast disease risk.