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Objective: Endometriosis (Endometriosis, EMS) is a common benign gynecological diseases, the incidence showed an increasing trend in recent years. But its occurrence and development mechanism is not very clear. EMS is the study of genetic and environmental factors result of joint action, while the incidence of EMS have a genetic basis and familial aggregation tendency, which made the EMS genetic predisposition, that individual genetic differences between people caused different susceptibility for EMS. Genetic variation and abroad have already made many relationships with EMS research, such as EMS and estrogen receptors, integrins, inflammatory cytokines, such as matrix metalloproteinase gene polymorphism. EMS found not only with the blood reflux, blood vessels in endometriotic formation, growth, invasion, and degeneration is an estrogen-dependent diseases. Ectopic endometrium can produce estrogen and estrogen receptors by. May be associated with the EMS estrogen (estrogen, E) synthesis and metabolic abnormalities in a number of gene abnormalities or metabolic response to the E-sensitive response is too strong basis (EMS genetic susceptibility factors), a variety of environmental factors occurrence of the EMS-induced, but may simply twelve mutations can lead to the occurrence of EMS. E synthesis and metabolic enzyme catalyzed by different cytochrome P450 enzymes CYP1A2, CYP3A4, and catechol-O-methyltransferase (COMT) is a key enzyme in the metabolism of E, and E is the synthesis of CYP17 key enzyme. While the E key enzyme synthesis and metabolism gene polymorphism may alter enzyme content and enzyme activity which affects the metabolism of E, can be used as EMS candidate virulence genes. It is therefore necessary in different populations synthesis and metabolism of the E gene polymorphism was further explored, from the genetic level to clarify more precisely the relationship between E and the pathogenesis of EMS. Purpose of this study is to investigate the CYP1A2 gene G-2964A, CYP3A4 gene A-290G, COMT gene G1947A, CYP17 gene T-34C gene polymorphism and genetic susceptibility to endometriosis relationship. Methods: The study group: Choose from October 2006 to September 2008, the Second Affiliated Hospital of Hebei Medical University, via open or laparoscopic surgery, and by the gross and histological examination confirmed endometriosis patients with 108 cases (according to the revised AFS endometriosis staging score, both Ⅲ, Ⅳ stage). Control group: Select the same period in our hospital healthy unrelated individuals and due to tubal recanalization, uterine prolapse, ovarian cyst laparoscopic surgery, preoperative examination were six female hormones in the normal range, intraoperative Macroscopic and exclude pathological endometriosis. No recent taking steroids and immunosuppressive drugs, eliminate mental diseases, kidney disease, breast disease and other gynecological malignancies, excluding familial genetic diseases such as diabetes, hypertension and other diseases, excluding polycystic ovary syndrome, dysfunctional bleeding and other endocrine diseases, 84 cases of women of reproductive age. Two groups of objects are Hebei Han people, unrelated. Take the test object cubital vein 1-2ml, EDTA anticoagulated whole genome extracted DNA, respectively, by polymerase chain reaction (PCR) amplification technology, including CYP1A2 gene G-296 4A, CYP3A4 gene A-290G, COMT gene G1947A, T-34 C CYP17 gene loci polymorphic fragments of the target gene and then adding the appropriate restriction endonuclease digestion, digestion products of 2% or 3% agarose gel electrophoresis plus 60 ~ 80V voltage 90min, ultraviolet analyzer observation digestion result, according to the size of the product determine the genotype of each patient sample by direct counting method to calculate the frequency of each allele phenotype for χ2 test to see whether the Hard-Weinberg genetic equilibrium using χ2 test and analysis of CYP1A2 gene OR = G-2964A, CYP3A4 gene A-290G, COMT gene G1947A, CYP17 gene T-34C polymorphism and endometriosis relationship, application SPSS13.0 software for statistical analysis . Results: 1 pair of endometriosis combined control group CYP17 gene, CYP1A2 gene and the gene COMT genotype frequencies were tested for Hardy-Weinberg equilibrium, reached genetic equilibrium. 2 CYP17 gene T-34C of the three genotypes: TT / TC / CC in carrying case group were 28 (25.9%), 51 (47.2%), 29 (26.9%) in the control group were 9 (10.7 %), 40 (47.6%), 35 (41.7%), the difference between the two groups was statistically significant (χ ~ 2 = 8.786, P = 0.012), OR was 0.514 (95% CI 0.280 to 0.944). T-34C illustrate CYP17 gene polymorphism with stage Ⅲ, Ⅳ endometriosis relevant. Where T / C allele frequency distribution in the case group was 49.5/50.5%, 34.5/65.5% in the control group. The difference was statistically significant (χ ~ 2 = 8.692, P = 0.003). Calculate the gene variant and stage Ⅲ, Ⅳ endometriosis the risk, OR = 0.537 (95% CI 0.355 ~ 0.813). Description CYP17 * T genotype and allele stage Ⅲ, Ⅳ endometriosis risk factors. CYP17 gene polymorphism may be associated with endometriosis genetic susceptibility. 3 CYP1A2 gene G-2964A three genotypes: GG / GA / AA carrying case group were 61 (56.5%), 41 (38.0%), 6 (5.5%) in the control group were carrying persons as follows: 54 (64.3%), 24 (28.6%), 6 (7.1%). Between the two groups was not statistically significant (χ ~ 2 = 1.902, P = 0.386). OR = 1.183 (95% CI of 0.738 ~ 1.894). Description not found CYP1A2 gene polymorphism with stage Ⅲ, Ⅳ incidence of endometriosis correlated. Where G / A allele frequency distribution in the case group was 75.5/24.5% in the control group: 78.6 / 21.4% between the two groups was not statistically significant (χ ~ 2 = 0.513, P = 0.474). Calculate the gene variant and stage Ⅲ, Ⅳ endometriosis the risk, OR = 1.192 (95% CI 1.93 to 0.737 ~). Found no A / C genotype and stage Ⅲ, Ⅳ incidence of endometriosis correlated. Description CYP1A2 gene polymorphism may not endometriosis independent risk factor. Due to A / A genotype less will G / A, A / A genotype merger, G / AA / A genotype and G / G compared between the two groups was not statistically significant χ ~ 2 = 1.198, P = 0.274, and G / AA / A genotype G / G genotype did not significantly increase the risk of endometriosis, OR = 0.721 (95% CI = 0.401 ~ 1.296). 4 control group and the patient group was not detected CYP3A4 gene A-290G mutation, all are CYP3A4 AA type. 5, COMT gene G1947A three genotypes: GG / GA / AA carrier rate in the case group were 69 (63.9%), 37 (34.2%), 2 (1.9%) in the control group were carrying persons : 49 (58.3%), 27 (32.1%), 8 (9.5%). Between the two groups was not statistically significant (χ ~ 2 = 5.640, P = 0.06). We observed COMT G1947A allele in the endometriosis group and the control group carrying rate was not significantly different. Description not found COMT gene polymorphism with stage Ⅲ, Ⅳ incidence of endometriosis correlated. Where G / A allele frequency distribution in the case group was 81.0/19.0%, 74.4/25.6% in the control group, the difference between the two groups was not statistically significant (χ ~ 2 = 2.419, P = 0.120). Due to A / A genotype less will G / A, A / A genotype merger, G / AA / A genotype and G / G compared between the two groups was not statistically significant χ ~ 2 = 0.616, P = 0.433, and G / AA / A genotype G / G genotype did not significantly increase the risk of endometriosis, OR = 1.264 (95% CI = 0.704 ~ 2.269). Conclusions: 1 CYP17 gene may be associated with T-34C stage Ⅲ, Ⅳ risk of endometriosis-related, that carry CYP17 * T allele may have a higher incidence of endometriosis risk. 2 CYP1A2 gene G-2964A polymorphism may be associated with stage Ⅲ, Ⅳ endometriosis risk nothing. 3 CYP3A4 gene A-290G polymorphism in Hebei women of childbearing age without mutations. 4 COMT gene G1947A polymorphism may be associated with stage Ⅲ, Ⅳ endometriosis risk nothing.
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