ABSTRACT
OBJECTIVE: To explore the association of the CYP19 gene polymorphism with the risk of endometriosis. METHODS: Two hundred seventy-nine women with surgically or histologically diagnosed endometriosis of stages I-IV (ASRM, 1997) were recruited, and two hundred eighteen patients with no evidence of endometriosis by laparoscopy or laparotomy served as control. We analysed the frequency and distribution of a TTTA repeat polymorphism and a 3 bp insertion (I)/deletion (D) polymorphism in intron 4 of the CYP19 gene. RESULTS: Six alleles of the CYP19 gene tetranucleotide repeat polymorphism were found in subjects: from 7 repeats to 13 repeats except 9 repeats. There was no statistically significant difference in the allele distribution of tetranucleotide repeat polymorphism in intron 4 of the CYP19 gene between patients with endometriosis and controls. Also there was no statistically significant difference in the 3 bp insertion (I)/deletion (D) polymorphism in intron 4 of the CYP19 gene between patients with endometriosis and controls. CONCLUSION: These results suggest that tetranucleotide repeat polymorphism and a 3 bp insertion (I)/deletion (D) polymorphism of the CYP19 gene are not associated with the risk endometriosis in the Korean population.