Hsieh Yao-Yuan, Chang Chi-Chen, Tsai Fuu-Jen, Lin Cheng-Chieh, Tsai Chang-Hai
Department of Obstetrics and Gynecology, China Medical University Hospital, No. 2 Yuh-Der Road, Taichung, Taiwan.
J Genet. 2004 Aug;83(2):189-92. doi: 10.1007/BF02729896.
Estrogen plays a role in the pathogenesis of endometriosis. The CYP17 gene codes for the cytochrome P450c17alpha enzyme that is involved in the estrogen biosynthesis. We aimed to investigate if CYP17 polymorphism could be used as marker to predict the susceptibility of endometriosis. Women were divided into two groups: (1) severe endometriosis (n=119); (2) non-endometriosis groups (n=128). A 169-bp fragment encompassing the T/C polymorphic site in 5'-untranslated promoter region (5'-UTR) of the CYP17 was amplified by the polymerase chain reaction, treated with restriction enzyme MspA1I, and electrophoresis. The polymorphism was divided into restriction-enzyme indigestible (T homozygote), T/C heterozygote, and digestible (C homozygote). Genotypes and allelic frequencies for this polymorphism in both groups were compared. We observed a higher but non-significant percentage of T homozygote in the endometriosis women compared with the non-endometriosis women. Proportions of T homozygote / heterozygote / C homozygote for CYP17 in both groups were: (1) 26.1/46.2/27.7% and (2) 17.2/45.3/37.5% (p-value=0.131). T allele was related with higher susceptibility of endometriosis. T and C allele frequencies in both groups were: (1) 49.2/50.8%; (2) 39.8/60.2% (p-value=0.046). Despite the CYP17* T allele appearing to be associated with a trend of increased risk of endometriosis, CYP17 5'-UTR gene polymorphism might not be a useful marker for prediction of endometriosis susceptibility.
雌激素在子宫内膜异位症的发病机制中起作用。CYP17基因编码参与雌激素生物合成的细胞色素P450c17α酶。我们旨在研究CYP17基因多态性是否可作为预测子宫内膜异位症易感性的标志物。女性被分为两组：（1）重度子宫内膜异位症组（n = 119）；（2）非子宫内膜异位症组（n = 128）。通过聚合酶链反应扩增包含CYP17基因5'-非翻译启动子区域（5'-UTR）中T/C多态性位点的169 bp片段，用限制性内切酶MspA1I处理并进行电泳。该多态性分为限制性内切酶不可消化型（T纯合子）、T/C杂合子和可消化型（C纯合子）。比较两组中该多态性的基因型和等位基因频率。我们观察到，与非子宫内膜异位症女性相比，子宫内膜异位症女性中T纯合子的百分比更高，但差异无统计学意义。两组中CYP17基因的T纯合子/杂合子/C纯合子比例分别为：（1）26.1/46.2/27.7%和（2）17.2/45. /37.5%（p值 = 0.131）。T等位基因与子宫内膜异位症的较高易感性相关。两组中T和C等位基因频率分别为：（1）49.2/50.8%；（2）39.8/60.2%（p值 = 0.046）。尽管CYP17*T等位基因似乎与子宫内膜异位症风险增加的趋势相关，但CYP17 5'-UTR基因多态性可能不是预测子宫内膜异位症易感性的有用标志物。
