The association between the PROGINS receptor gene polymorphism and endometriosis.

Objective To evaluate the association between the 306-base pair insertion polymorphism in intron G of the progesterone receptor gene (PROGINS) and endometriosis. Methods From June 2005 to June 2006 in a case care-control study,the PROGINS polymorphism of the progesterone receptor gene was examined in 66 women with surgically diagnosed and histologically confirmed endometriosis and 56 women without endometriosis (controls)in the Second Hospital Affiliated to China Medical University and the 463 Hospital of PLA.Peripheral blood samples, DNA extraction and polymerase chain reaction (PCR) were used to genotype women for the presence of the PROGINS polymorphism. Results Frequencies of the mutant allele T2 was 0.14 among women with endometriosis and 0.04 among controls (odds ratio) 4.54 (95%CI:1.50-13.78)P=0.004.Homozygosity for allele T2 was present in 3.0% of women with endometriosis. Conclusion PROGINS may be associated with an increased risk of endometriosis.