The importance of gene polymorphism in familial inheritance of endometriosis

Abstract

Objective: The study aimed to investigate familial transmission patterns in women with endometriosis by generating a customized single-nucleotide polymorphism (SNP) array. Methods: Patients aged 18-45 who were diagnosed histopathologically with endometriosis were included in the study. Daughters and mothers of these patients were also included, regardless of whether they were diagnosed with endometriosis or not. The control group consisted of female patients of similar ages who were not diagnosed with endometriosis. The first stage of this investigation was the determination of the genes associated with the SNPs through meta-analyses in the field of endometriosis in the literature. The second stage was the creation of a unique SNP array by determining the SNPs in the selected target genes. We specifically evaluated whether SNPs in the WNT4 gene at locus 1p36.12 (rs7521902), the GREB1 gene at locus 2p25.1 (rs13391619), and the FN1 gene at locus 2q35 (rs1250248) were associated with endometriosis risk in the Turkish population. Results: The study included 91 participants, comprising 66 women diagnosed with endometriosis and 25 healthy controls. The analysis revealed statistically significant associations for the FN1 (rs1250248, G>A) and the GREB1 (rs13391619, T>C) variants among endometriosis patients and their mothers and daughters, indicating a possible familial genetic link. Conclusion: These findings strengthen the evidence for a hereditary component in endometriosis and suggest that SNP-based genetic profiling may support earlier identification of at-risk individuals, enabling more timely surveillance and clinical intervention.