Endometriosis Is Associated With The ESR1 Gene Polymorphisms Rs9340799 And Rs2234693 And The Serum Levels Of Estradiol And CA19-9 Endometriosis Is Associated With ESR1 Polymorphisms

Abstract

Endometriosis is a complex, estrogen-dependent disorder characterized by the abnormal growth of endometrial tissue outside the uterus. Although the condition is believed to have a hereditary component, its exact causes are still not fully understood. Various genetic factors have been proposed, and differences linked to ethnicity have also been noted. At the same time, there is a strong need for less invasive methods of diagnosing this disease. In this study, we examined the potential link between endometriosis and two polymorphisms in the Estrogen Receptor 1 (ESR1) gene—rs9340799 and rs2234693 among women in Babylon province, Iraq. Additionally, we assessed the serum levels of estradiol (E2) and the tumor marker CA19-9 to explore their diagnostic value alongside the genetic variations. The study was designed as a case-control analysis, including 50 women diagnosed with endometriosis and 50 healthy, unrelated women as controls. Genotyping for the ESR1 polymorphisms was carried out using polymerase chain reaction (PCR) followed by gene sequencing, while electrochemiluminescence assays measured serum concentrations of E2 and CA19-9. Statistical analysis involved calculating odds ratios and using Chi-squared tests to explore associations, while ROC (Receiver Operating Characteristic) analysis was employed to evaluate the diagnostic performance of the markers. Findings revealed that both the rs9340799 X allele and the rs2234693 P allele were significantly more frequent in the endometriosis group compared to controls (p<0.0001 for both). Furthermore, patients exhibited higher serum levels of estradiol and CA19-9 (p<0.001), and these elevations were correlated with the presence of the ESR1 polymorphisms (p<0.01). ROC analysis indicated that combining the two genetic markers with serum E2 and CA19-9 levels could distinguish endometriosis cases from controls with 91% accuracy (sensitivity 92%, 95% CI: 80%-98%; specificity 74%, 95% CI: 60%-85%). Overall, the study highlights a strong association between endometriosis and the ESR1 gene polymorphisms rs9340799 and rs2234693, as well as elevated serum levels of estradiol and CA19-These findings suggest that this combination of genetic and biochemical markers holds promise for the development of improved diagnostic approaches, although further research is needed to validate these results.