Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women
Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women
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DOI：
10.1093/humrep/17.4.897
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发表时间：
2002-04-01
影响因子：
6.1
通讯作者：
Honjo, H
中科院分区：
文献类型：
--
作者：
Kado, N;Kitawaki, J;Honjo, H
背景：为探讨CYP17和CYP19基因多态性是否与子宫内膜异位症风险相关，我们分析了CYP17基因5'非翻译区的单核苷酸多态性、CYP19基因内含子4的四核苷酸（TTTA）串联重复多态性和3 bp插入（I）/缺失（D）多态性的频率和分布。方法：我们研究了 140 名子宫内膜异位症患者、67 名子宫腺肌病和/或平滑肌瘤患者以及 177 名健康对照女性。结果：CYP17基因型和CYP19 TTTA重复多态性等位基因分布在各组间无显着差异。相反，与对照组相比，子宫内膜异位症组中 D/D 基因型的频率增加（D/D 基因型与 I/I 加 VD 基因型；校正 P = 0.024）。这在有巧克力囊肿的子宫内膜异位亚组（校正 P = 0.043）和严重临床阶段（校正 P = 0.035）中更为明显。结论：结果表明，CYP19 基因的 3 bp I/D 多态性可能与日本人群子宫内膜异位症的易感性存在微弱相关。
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 VD 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.