A Search to Identify Genetic Risk Factors for Endometriosis

Problem To search for molecular markers of endometriosis the following polymorphisms: p53 codon 72 Pro (apoptosis), TNF alpha‐308 (inflammation), VEGF‐1164AA (angiogenesis), and SOD2 (oxidative stress) were investigated. Method of study Forty‐two women—24 with surgically proven endometriosis and 18 with no endometriosis found at the time of laparoscopy–had buccal swabs taken for DNA analyses of 4 gene polymorphisms including p53codon72, TNF‐308 G/A, VEGF‐1154G/A, SOD Ala16Val DNA. The frequencies of genotypes and alleles of these polymorphisms were compared between women with and without endometriosis. Results No specific gene mutation differences for the four genes tested nor differences in the frequencies of heterozygous and homozygous mutations were found between patients with endometriosis and controls. In addition, no differences in allelic frequencies of the four genetic polymorphisms were observed between patients with endometriosis and control. Conclusion Endometriosis is not associated with gene mutations for p53codon72, TNF‐308 G/A, VEGF‐1154G/A, SOD Ala16Val.