Single nucleotide polymorphisms and haplotypes of the genes encoding the CYP1B1 in Korean women: No association with advanced endometriosis

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Abstract
Objective: To investigate whether single nucleotide polymorphisms and its haplotypes of gene encoding CYP1B1 are associated with the risk of advanced endometriosis in Korean women. Methods: We investigated 221 patients with histopathologically confirmed endometriosis rAFS stage III/IV and 188 control group women who were surgically proven to have no endometriosis. The genetic distribution of four different CYP1B1 polymorphisms at Ala119Ser, Leu432Val, Asp449(C>T), Asn453Ser were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism of PCR products. Haplotype analysis was also performed. Results: We found no overall association between each individual CYP1B1 genotype or haplotype and the risk of endometriosis. Also, the odds ratio of each haplotypes of CYP1B1 showed no association with the risk of endometriosis. Conclusions: These results suggest that CYP1B1 genetic polymorphism may not be associated with development of advanced endometriosis in Korean women.