Genetic variation in COX-2-1195 and the risk of endometriosis and adenomyosis

Aim: This study aims to explore the relationship between COX-2 gene polymorphism and the hereditary susceptibility of endometriosis and adenomyosis. Materials and Methods: Gene polymorphism in COX-2 gene was genotyped in 170 cases of endometriosis, 150 cases of adenomyosis, and 240 matched non-endometriosis and non-adenomyosis controls. Results: Genotypic frequencies of GO, AG, and AA in COX-2 locus in endometriosis and adenomyosis were 16.5%, 51.2%, 32.4% and 16.0%, 49.3%, 34.7%, respectively. They were both significantly different from those in the control group (24.6%, 53.3%, and 22.1%) (p < 0.05). An allele frequency in endometriosis and adenomyosis were significantly higher than that in the control group. The risk of endometriosis or adenomyosis for those carrying two A alleles were 2.19 and 2.41 times to non-A genotype. Conclusion: Genetic variation of G to A at -1195 locus in the promoter region of COX-2 gene increases the risk of endometriosis and adenomyosis, and the genetic susceptibility of these two diseases are similar.