Objective : Endometriosis is the heterotopic growth of endometrial tissue in pelvic sites outside the uterine cavity. It is widely considered that endometriosis is caused by an interaction between multiple genes and environmental factors. In the present study, patients with endometriosis followed in the Department of Obstetrics and Gynecology at Juntendo University were categorized into three groups, and the association between endometriosis and genetic polymorphisms 0f estrogen receptor α (ESRα), ESRβ and glutathione S-transferase (GSTM1 and GSTT1) were investigated.
Patients & Methods : Patients with endometriosis were categorized into the recurrent group (RE=40 cases), non-recurrent group (NR=42 cases), and patients with deep lesions in the Douglas pouch (DP=58 cases), and their DNA samples were used for the genetic study. Healthy individuals were used as controls (CL=90 cases). Polymorphisms of ER-TA repeat (ESRα) and D14S1026 (ESRβ) were allelotyped with Genetic Analyzer. ESRα
Pvu II polymorphism was typed by PCR-restriction enzyme digestion. Null genotype of GSTM1 and GSTT1 was detected by PCR.
Results : In the ER-TA repeats, only the DP group showed higher frequency of the allele, with 22 repeats. When ER-TA alleles were divided into shorter repeats and longer repeats, only the NR group showed significantly more smaller allelic genotypes than the control group. In the DP group only, ESR-
Pvu II genotype was frequent, which was contrary to previous reports. There was no association between ESRβ polymorphism and endometriosis. The frequency of null genotype of GSTM1 was higher in NR, and GSTT1 null genotype was higher in NR and DP as compared to the controls.
Conclusion : Associations between genetic polymorphisms and endometriosis were investigated.Statistically significant differences in the allelic distribution of ESRα and GSTM1/TI null genotypes were detected in some of the patient groups, however, allelic frequencies of the genes were different between recurrent, non-recurrent, and deep lesion groups. Thus, genetic polymorphisms are more complex than previously thought, and these allelic variations possibly influence the severity and manifestation of disease in conjunction with racial, ethnic, geographic and environmental factors.
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