الفهرس 
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Abstract
Endometriosis is an estrogen-dependent inflammatory gynecological disease that affects 10 to 15% of women of reproductive age. Its defining feature is the presence of endometrium-like tissue in sites outside the uterine cavity, primarily on the pelvic peritoneum and ovaries. The main clinical features are chronic pelvic pain, pain during intercourse, and infertility. A great number of studies have related genetic polymorphisms as a factor that contributes to the development of endometriosis.
Past research indicates that a combination of immunologic, genetic, anatomic and hormonal factors contribute to a woman’s susceptibility to the development of endometriosis. Regarding the pathogenesis of this disease, Sampson’s retrograde transplantation theory is the most widely accepted, which implies that there is reflux of viable endometrial fragments through the Fallopian tubes during menstruation, with subsequent adhesion, implantation and growth on and into the peritoneum. It has been argued that all women with patent tubes develop asymptomatic peritoneal endometriosis to a certain extent during their life time .However, Sampson’s theory does not explain why only in a minority of women retrograde menstruation results in the development of symptomatic endometriosis. Endometriosis has long been recognized as having heritable tendencies and is considered a polygenic disease with a multifactorial aetiology.Genetic association studies have been performed for a number of candidate genes potentially involved in the pathogenesis of endometriosis.Thus, the objective of the present study was to determine whether the ERβ gene polymorphism and PROGINS poly-morphism are actually associated with endometriosis .
Case-control study included 50 women with endometriosis, were collected from Medicine University Hospital, Mansoura University, Mansoura, Egypt, (mean age: 30.7.± 4.3 years) diagnosed by laparoscopy and classified by histological criteria according to the American Society for Reproductive Medicine. In the endometriosis group, 36.0 % for the patients (32/50) had minimal or mild (stage I/II) and 34.0 % (18/50) had moderate or severe (stage III/IV)endometriosis, and 24 fertile women without endometriosis as control ( mean age: 31.4.± 4.1 years. The PROGINS polymorphism was identified by by PCR using Taq polymerase enzyme and T-Gradient thermal cycler (Biometra, Germany). and the ERβ gene + 1730 G/A polymorphism was identified by Restriction Fragment Length Polymorphism –Polymerase Chain Reaction (RFLP-PCR).
Methods has been following in this study:
1 – 3 ml venous blood sample were collected from each case and collected in EDTA tube.
2 – DNA Extraction ((DNA purification from blood samples of each of the infected and the healthy ladies Using ( QIAamp DNA Blood Mini Kit ; QIAGEN, Hilden, Germany )
3 - PCR polymorphism of the progesterone (PROGINS) by Taq polymerase and estrogen (ERβ), by Taq polymerase enzyme and Alu I as restriction enzyme.
4 – Electrophoresis using agarose gel .
5 – Imaging the resulting bands using ultraviolet (UV) transilluminators
Our results indicate no significant correlation between PROGINS polymorphism and endometriosis. The frequency of the polymorphic genotype A1/A2 of the progesterone recep¬tor gene in the con¬trol group without endometriosis is approximately 0.78 times higher than in the patients. The frequency of genotype A2/A2 of PROGINS polymorphism is approximately 0.45 times higher in the control group than in the endometriosis group. The frequency of polymorphic genotypes A1/A2 and A2/A2 is approximately 0.68 times higher in the control group than in the endometriosis group
We found significant differences between women with and without endometriosis regarding the frequencies of the ERβ gene +1730 G/A polymorphism. Thus, our data suggest that an ERβ gene polymorphism may be associated with infertility-associate endometriosis. The frequency of the polymorphic genotype G/A of the ERβ gene polymorphism in the patients with endometriosis is approximately 6.7 times higher than in the con¬trol group without endometriosis. The frequency of genotype A/A of ERβ gene polymorphism is approximately 8.7 times higher in the endometriosis group than in the control group. The frequency of polymorphic genotypes G/A and A/A is approximately 8.6 times higher in the endometriosis group than in the control group.
The ERβ gene +1730 G/A polymorphism may be related to the degree of endometriosis diseas because in our study there was significant correlation between +1730 G/A polymorphism and endometriosisStage III/Stage IV (Severe endometriosis) (P=0.003) related to the studied polymorphism frequency in control group , and the frequency of allel A of the ERβ gene +1730 G/A polymorphism in Stage III/Stage IV (Severe endometriosis) was 13 times higher than in the control group (P =0.0005).
In conclusion, we have shown that the presence of the ERβ gene +1730 G/A polymorphism increase the risk of infiltrating endometriosis compared to the +1730 G/G genotype. In contrast, the PROGINS polymorphism does not seem to modify the risk of developing infiltrating endometriosis in Egyptian women; however, the power calculation of the sample was low, suggesting that a larger sample is needed.