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Hum Reprod. 2002 Apr;17(4):897-902.

Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women.

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Department of Obstetrics, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.



To investigate whether polymorphisms of CYP17 and CYP19 genes are associated with the risk of endometriosis, we analysed the frequency and distribution of a single nucleotide polymorphism at the 5' untranslated region of the CYP17 gene, and a tetranucleotide (TTTA) tandem repeat polymorphism and a 3 bp insertion (I)/deletion (D) polymorphism in intron 4 of the CYP19 gene.


We studied 140 patients with endometriosis, 67 with adenomyosis and/or leiomyomas and 177 healthy control women.


The distribution of the genotypes of CYP17 and alleles of the TTTA repeat polymorphism of CYP19 were not significantly different between the groups. In contrast, an increased frequency of the D/D genotype was observed in the endometriosis group as compared with the control group (D/D genotype versus I/I plus I/D genotypes; corrected P = 0.024). This was more evident in the endometriosis subgroups with chocolate cysts (corrected P = 0.043) and at severe clinical stages (corrected P = 0.035).


The results suggest that the 3 bp I/D polymorphism of the CYP19 gene may be weakly associated with the susceptibility of endometriosis in a Japanese population.

[Indexed for MEDLINE]

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