CYP17 and CYP2C19 gene polymorphisms in patients with endometriosis
CYP17 and CYP2C19 gene polymorphisms in patients with endometriosis
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DOI：
10.1016/j.rbmo.2009.11.007
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发表时间：
2010-02-01
影响因子：
4
通讯作者：
Gurgan, Timur
中科院分区：
文献类型：
--
作者：
Bozdag, Gurkan;Alp, Alpaslan;Gurgan, Timur
子宫内膜异位症似乎是环境因素和各种基因之间复杂相互作用的结果。在这方面，细胞色素亚家族17（CYP 17）可能通过改变性类固醇的生物合成而发挥重要作用。CYP2C19也是细胞色素P450（CYP2C19）家族的重要成员，相关突变可能导致不能完全代谢环境化学物质和细胞因子，导致多种疾病。本研究旨在探讨CYP17 T> C、CYP2C19 * 2和CYP2C19 * 3基因多态性与子宫内膜异位症的关系。当分析46例子宫内膜异位症患者和39例健康对照者的样本时，观察到CYP17基因的A2A2型突变在子宫内膜异位症患者中更常见（34.8%对7.7%，P = 0.003）。未发现CYP2C19基因的CYP2C19 * 2或CYP2C19 * 3多态性与子宫内膜异位症的严重程度相关。这些结果提示性激素代谢相关基因突变在子宫内膜异位症发病中起重要作用。然而，解毒能力和子宫内膜异位症之间的关系，应在更大的样本量进一步研究。(C)2009年，生殖保健有限公司出版的爱思唯尔有限公司保留所有权利。
Endometriosis seems to be the result of a complex interaction between environmental factors and various genes. In this regard, the cytochrome subfamily 17 (CYP17) may play an important rote by altering the biosynthesis of sex steroids. CYP2C19 is also an important member of the cytochrome P450 (CYP) family, and related mutations may result in an inability to fully metabolize environmental chemicals and cytokines, Leading to several diseases. This study sought to determine whether there is a relationship between endometriosis and CYP17 T>C, CYP2C19*2 and CYP2C19*3 polymorphisms. When samples from 46 patients with endometriosis and 39 healthy controls were analysed, A2A2 type mutation of the CYP17 gene was observed to be more frequent in patients with endometriosis (34.8 versus 7.7%, P=0.003). No association was found between the severity of endometriosis and CYP2C19*2 or CYP2C19*3 polymorphisms of the CYP2C19 gene. These results suggest that mutations related with sex steroid metabolism seem to have an important role in endometriosis. However, the relation between detoxification ability and endometriosis should be examined in further studies with larger sample sizes. (C) 2009, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.