Exploring the Genetic Basis of Endometriosis and Its Association with Infertility

Endometriosis is a multifactorial gynecological disorder strongly associated with infertility and reduced quality of life. Despite its high prevalence, the genetic mechanisms underlying its pathogenesis remain insufficiently understood. This study investigates the genetic basis of endometriosis and its association with infertility in a cohort of 110 Iraqi women aged 18–45. A comprehensive methodology was applied, incorporating demographic surveys, oxidative stress measurements, imaging diagnostics (ultrasound and MRI), and genotyping of p53, eNOS, and HLA-DQB1 variants using PCR techniques. Statistical analyses revealed significant associations between these gene variants and endometriosis (p < 0.01), alongside a positive correlation between patient age and disease severity (r = 0.47, p < 0.01). Endometriosis prevalence reached 70%, with infertility observed in 59.1% of participants. Histopathological findings frequently included adhesions and inflammation. These results highlight specific genetic predispositions contributing to both the development of endometriosis and subsequent infertility, emphasizing the disorder’s complex etiology. The study underscores the need for personalized, genomics-based diagnostic and therapeutic approaches and calls for further research into gene-environment interactions to improve outcomes for affected women.