Relationship between functional genetic variations in cyclooxygenase-2 and risk of endometriosis

To identify functional SNPs in the COX-2 promoter and evaluate its effects on risk of endometriosis. The genomic DNA of each subject was extracted by proteinase K digestion followed by saturated hydroxybenzene/chloroform procedure. Genotypes of COX-2 -1195 promoter of 120 endometriosis cases and 240 controls were examined by polymerase chain reaction-based restriction fragment length polymorphism PCR- RFLP. The frequencies of GG,AG and AA genotype of COX-2 - 1195 promoter were 14. 2% ,50. 0% and 35.8% in 120 patients with endometriosis,24. 6% ,53.3% and 22. 1% in 240 controls respectively, and there was a significant difference between test cases and controls. A greater risk of developing endometriosis was found for A -1195 containing haplotype as compared with other haplotypes. It was revealed a 1.63-fold 95% CI =0. 87 - 3.03 and 2. 82-fold 95% CI = 1.44 -5.52 excess risk of developing endometriosis in the individual for -1195.4 and - 1195AA containing haplotype respectively. The single nucleotide polymorphism of COX-2 - 1195G C promoter may play an important role in genetic basic to endometriosis.