Association of CYP1B1 gene polymorphisms and the positive expression of estrogen alpha and estrogen beta with endometrial cancer risk

作者：Zhu Z Y^*; Mu Y Q; Fu X M; Li S M; Zhao F X

来源：European Journal of Gynaecological Oncology, 2011, 32(2): 188-191.

• Endometrial cancer
• L432V polymorphism of CYP1B1 gene
• Risk factor
• ER alpha and ER beta

To investigate the relationship between the CYP1B1 L432V polymorphism, ER alpha and ER beta positivities and the incidence of endometrial cancer. The relationship between CYP1B1 L432V polymorphism, ER alpha and ER beta positivities and endometrial cancer was investigated using the allele-specific polymerase chain reaction method to analyze gene polymorphism in exon 3 codon 432 (C-G) of CYP1B1. Our results are as follows: in endometrial cancer cases the prevalence rates of CYP1B1 L432V genotypes C/C, C/G, and GIG were 47.2%, 36.1%, and 16.7%, respectively, and 68.8%, 23.8% and 7.5% in the control group, respectively. The frequencies of CYP1B1 C and G alleles were 65.3% and 34.7% in endometrial cancer patients and 80.6% and 19.4% in the control group. A significant difference was found in the genotype distributions or allele frequencies of CYP1B1 L432V polymorphism between the two groups (p < 0.05). Compared with wild-type C/C, the susceptibility of endometrial cancer with homozygotic mutation GIG and heterozygotic mutation C/G increased by 3.235 (95%CI 1.111-9.425) and 2.214 (95% CI 1.067-4.593). Moveover, the positive expression of ER alpha in genotypes GIG and C/G was higher than in the wild genotype C/C (p < 0.05). In conclusion, allelic polymorphism of CYP1B1 L432V increases the risk of endometrial cancer and has a positive correlation with ER alpha expression.

• 出版日期2011
• 单位山西大同大学