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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.

Author information

1
Department of Obstetrics, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.

Abstract

BACKGROUND:

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.

METHODS:

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

RESULTS:

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).

CONCLUSIONS:

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.

PMID:
11925378
[Indexed for MEDLINE]

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