Results
| PMID | 11925378 |
| Gene Name | CYP19A1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | 3 bp I/D polymorphism of the CYP19 |
| Population size | 384 |
| Population details | 384 (140 patients with endometriosis, 67 with adenomyosis and/or leiomyomas and 177 healthy control women) |
| Sex | Female |
| Associated genes | CYP19, CYP17 |
| Other associated phenotypes |
Endometriosis |
|
Hum Reprod. 2002 Apr;17(4):897-902. Kado, Noriko| Kitawaki, Jo| Obayashi, Hiroshi| Ishihara, Hiroaki| Koshiba, Hisato| Kusuki, Izumi| Tsukamoto, Katsumi| Hasegawa, Goji| Nakamura, Naoto| Yoshikawa, Toshikazu| Honjo, Hideo Department of Obstetrics, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan. 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. Mesh Terms: Adult| Alleles| Aromatase/*genetics| Asian Continental Ancestry Group/*genetics| DNA Transposable Elements| Endometriosis/*genetics| Female| Gene Deletion| Gene Frequency| Genetic Predisposition to Disease/*genetics| Genotype| Humans| Japan| |
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