| BackgroundEndometriosis (EMs),a major contributor to pelvic pain and subfertility, is characterized by endometrial-like tissue outside the uterus. EMs affects 10 to 15% of women of reproductive age,and its incidence has been increasing in recent years.The most common symptoms associated with pelvic endometriosis are dysmenorrhea, chronic pelvic pain, and infertility, which affect health and life quality of women in a serious way. Although it is a kind of common gynecologic disease, the pathogenesis of the EMs is still controversial. The traditional opinions mainly includes as follows:(1) Theory of Endometrial planting; (2) Theory of epithelial metaplasia; (3) Theory of dissemination of lymph and blood; (4) Theory of immunity. But in fact, these views as dominant theories which is based on the theory of countercurrent of menstrualblood can not explain why most women have countercurrent of menstrualblood,while only 15% suffer EMs. At present, endometriosis is regarded as a genetic disease of complex trait in which genetic and environmental factors contribute to the disease phenotype.Epidemiological investigations and animal experiments have show that dioxin- like compounds (Dioxin) may increase the risk of EMs. There was widespread sentiment that dioxin works in the AhR signaling pathway that dioxin bind to the Per-Arnt-Sim (PAS) homology domain of arylhydrocarbon receptor(AhR), resulting in the translocation of the protein from cytoplasm to the nucleus, where it dimerizes with arylhydrocarbon receptor nuclear translocator (ARNT). As heterodimer, AhR and ARNT mediate most of the toxic effects of dioxins through transactivating target genes that encode arylhydrocarbons, such as cytochrome P450 enzymes and GST by binding to xenobiotic response element (XRE) enhancer sequences in their regulatory regions. According to some researches, the target genes may be related with EMs. At present, most of the researches about dioxin resulting in EMs focuses on the target genes (CYP1A1,CYP1A2,CYP1B1,GSTM1,GSTT1), there are still less researches about AhR gene,ANRT gene and GSTP1 gene.Objective1 To explore the association between EMs and the polymorphims of AhR1661G/A, ARNT567G/C or GSTP1 313A/G in southern Han Chinese, Looking for its susceptibility genes.2 To examine the association between combination of AhR1661G/A and ARNT567G/C,or combination of AhR1661G/A and GSTP1 313A/G. and the risk of EMs in southern Han Chinese.Methods1 Subject:The study groups include 434 EMs patients and 502 control subjects.All subjects on an empty stomach were drawn 2ml peripheral venous blood saved by Sodium Citrate,cryopreservation(-20℃).2 Method:2.1 DNA was extracted from peripheral leukocytes following the instructions of E.Z.N.A.E-Z 96 Blood DNA kit.2.2 Analysis of the polymorphisms by quantitativea PCR-based HRM.2.3 Chi-square test were used to examine the associations between EMs and the polymorphisms by different genetypes respectively. The statistical datas were processed by SPSS13.0.Results1 The distributions of AhR1661G/A among EMs and controls were in Hardy-Wein-berg equilibrium (x2=0.000, P=0.983; x2=1.367, P=0.242). The frequencies of genotypes AA, GA,GG and two alleles A,G in controls(12.0%,41.9%,46.1%,33.0%, 67.0%) were not significantly different from those in patients with EMs(9.7%,44.6%, 45.7%,32.0%,68.0%), (x2=1.483, P=0.476:x2=0.189, P=0.664).There is no difference whether AhRl661G/A contains G allcle or A allele (x 2=1.230, P=0.267; x2=0.014, P=0.907).2 The distributions of ARNT567G/C among EMs and controls were in Hardy-Wei-nberg equilibrium (x2=0.194, P=0.659;x2=2.106, P=0.147). The frequencies of genotypesGG, GC, CC and two alleles C, G in controls (15.6%,51.7%,32.7%, 58.5%,41.5%) were not significantly different from those in patients with EMs (13.5 %,47.8%,38.7%,62.6%,37.4%), (x 2=3.866, P=0.145; x 2=3.296, P=0.069).There is no difference whether ARNT567G/C contains G allele or C allele (x 2=3.736, P= 0.053; x2=0.876, P=0.349).3 The distributions of GSTP1 313A/G among EMs and controls were in Hardy-Weinberg equilibrium( x 2=3.581, P=0.058; x 2=1.291, P=0.256). The frequencies of genotypesAA, AG, GG and two alleles A, G in controls (65.7%,31.6%,2.6%, 81.5°。18.5%) were not significantly different from those in patients with EMs (60.4%,36.6%,3.0%,78.7%,21.3%), (x2=2.787, P=0.248; x2=2.237, P=0.126) There is no difference whether ARNT567G/C contains A allele or G allele (x 2=0.117, P=0.732; x2=2.786, P=0.095).4 No statistically significant association was observed between combination of AhR1661G/A and ARNT567G/C and the risk of EMs.5 The combination of GG genotype at AhR1661G/A and AG genotype at GSTP1 313A/G showed a statistically significant association with risk of EMs compared with the combination of GG genotype at AhR1661G/A and AA genotype at GSTP1313A/G (adjusted OR,1.833; 95% CI,1.233-2.747).Conclusion1 The polymorphisms of AhR1661G/A,ARNT567G/C and GSTP1 313A/G were detected in in southern Han Chinese women.2 We found no consistent evidence linking EMs with AhR 1661G/A,ARNT 567G/C or GSTP1 313A/G. in the southern Han here.3 No statistically significant association was observed between the combination of AhR1661G/A and ARNT567G/C and the risk of EMs.But the combination of AhR1661G/A and GSTP1313A/G. showed a statistically significant association with risk of EMs.lt further indicates that EMs is a polygenic disease. |
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