Genotype distribution of estrogen receptor-alpha, catechol-O-methyltransferase, and cytochrome P450 17 gene polymorphisms in Caucasian women with uterine leiomyomas
Genotype distribution of estrogen receptor-alpha, catechol-O-methyltransferase, and cytochrome P450 17 gene polymorphisms in Caucasian women with uterine leiomyomas
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DOI：
10.1016/j.fertnstert.2005.07.1308
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发表时间：
2006-02-01
影响因子：
6.7
通讯作者：
Tong, D
中科院分区：
文献类型：
--
作者：
Denschlag, D;Bentz, EK;Tong, D
目的：探讨子宫肌瘤与雌激素受体α(ESR1)、儿茶酚氧甲基转移酶(COMT)和细胞色素P45017(CyP17A)基因3个功能性单核苷酸多态性(SNPs)的相关性。设计：前瞻性病例对照研究。地点：学术研究机构。患者(S)：130名临床和手术诊断为子宫肌瘤的女性和139名人群对照。干预(S)：外周静脉穿刺点。主要观察指标(S)：对ESR1IVS1-397T/C(PvuII)、COMT G158A和CYP17A 34T-GT的基因型女性进行聚合酶链式反应和焦磷酸测序；结果：ESR1IVS1-397T/C(P=0.9和P=0.6)、COMT G158A(P=0.3和P=0.6)、CYP17A 34T-gt；C等位基因频率和基因型分布在子宫肌瘤患者和对照组之间差异无统计学意义(P=0.1和P=0.5)。当所研究的SNPs的所有双向相互作用都被确定时，没有观察到显著的相互作用。结论：在高加索人群中，携带ESR1IVS1-397T/C(PvuII)、COMT G158A和CYP17A 34T>；C SNP与子宫肌瘤的易感性无关。
Objective: To evaluate the association between the presence of uterine leiomyomas and three functional single nucleotide polymorphisms (SNPs) of the estrogen receptor alpha (ESR 1), catechol-O-methyltransferase (COMT) and cytochrom P450 17 (CYP 17A) genes, which have been described to modify the estrogen metabolism.Design: Prospective case control study.Setting: Academic research institution.Patient(s): One hundred thirty women with clinically and surgically diagnosed uterine leiomyomas and 139 population controls.Intervention(s): Peripheral venous puncture.Main Outcome Measure(s): Polymerase chain reaction and pyrosequencing were performed to genotype women with respect to the ESR1 IVS1-397 T/C (PvuII), COMT G158A, and the CYP17A 34T -> C SNPs.Result(s): Comparing women with uterine leiomyomas and controls, no statistically significant differences with respect to allele frequency and genotype distribution were ascertained for ESR1 IVS1-397 T/C (PvuII) (P=0.9 and P=0.6, respectively), COMT G158A (P=0.3 and P=0.6, respectively), and CYP17A 34T -> C (P=0.1 and P=0.5, respectively). When all two-way interactions of investigated SNPs were ascertained, no significant interactions were observed. In a multivariate model, no SNP was significantly associated with leiomyomas.Conclusion(s): Carriage of the ESR1 IVS1-397 T/C (PvuII), COMT G158A, and the CYP17A 34T -> C SNPs is not associated with the susceptibility to uterine leiomyoma in a Caucasian population.