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首页> 外文期刊>Journal of genetics >Cytochrome P450c17alpha 5'-untranslated region ~*T/C polymorphism in endometriosis
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Cytochrome P450c17alpha 5'-untranslated region ~*T/C polymorphism in endometriosis

机译：子宫内膜异位症中细胞色素P450c17alpha 5'非翻译区〜* T / C多态性

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摘要

Estrogen plays a role in the pathogenesis of endometriosis. The CYP17 gene codes for the cytochrome P450c17α 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 asscoiatd with a trend of increased risk of endometriosis, CYP17 5'-UTR gene polymorphism might not be a useful marker for prediction of endometriosis susceptibility.
机译：雌激素在子宫内膜异位症的发病机理中起作用。 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基因多态性是否可以用作预测子宫内膜异位症易感性的标记。妇女分为两组：（1）严重子宫内膜异位症（n = 119）; （2）非子宫内膜异位症组（n = 128）。通过聚合酶链反应扩增CYP17的5'-非翻译启动子区域（5'-UTR）中T / C多态性位点的169bp片段，用限制性酶MspA1I处理并进行电泳。该多态性分为限制性内切酶不易消化的（T纯合子），T / C杂合的和易消化的（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的T纯合子百分比更高，但不显着。两组中CYP17的T纯合子/杂合子/ C纯合子的比例为：（1）26.1 / 46.2 / 27.7％和（2）17.2 / 45.3 / 37.5％（p-值= 0.131）。 T等位基因与子宫内膜异位症易感性有关。两组的T和C等位基因频率为：（1）49.2 / 50.8％; （2）39.8 / 60.2％（p-值= 0.046）。尽管CYP17 * T等位基因似乎伴有子宫内膜异位症风险增加的趋势，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记。

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