Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 26054111
Gene Name PTGS2
Condition Endometriosis
Association Associated
Mutation G to A at -1195 locus in the promoter region of COX-2
Population size 560
Population details 560 (170 cases of endometriosis, 150 cases of adenomyosis, 240 matched non-endometriosis and non-adenomyosis controls)
Sex Female
Other associated phenotypes Endometriosis
Genetic variation in COX-2 -1195 and the risk of endometriosis and adenomyosis.

Clin Exp Obstet Gynecol. 2015;42(2):168-72.

Wang, Y| Qu, Y| Song, W



AIM: Ths study aims to explore the relationship between COX-2 gene polymorphism and the hereditary susceptibility or endoomeyriosis 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 GG, 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.

Mesh Terms: Adenomyosis/*genetics| Adult| Case-Control Studies| China| Cyclooxygenase 2/*genetics| Endometriosis/*genetics| Female| Gene Frequency| Genetic Predisposition to Disease| Genotype| Humans| Polymorphism, Genetic| Polymorphism, Restriction Fragm