Common Variation in the CYP17A1 and IFIT1 Genes on Chromosome 10 Does Not Contribute to the Risk of Endometriosis.

The open reproductive science journal Pub Date : 2008-01-01 DOI:10.2174/1874255600801010035

Zhen Zhen Zhao, Dale R Nyholt, Lien Le, Susan A Treloar, Grant W Montgomery

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引用次数: 15

Abstract

Endometriosis is a complex disease involving multiple susceptibility genes and environmental factors. Our previous studies on endometriosis identified a region of significant linkage on chromosome 10q. Two biological candidate genes (CYP17A1 and IFIT1) located on chromosome 10q, have previously been implicated in endometriosis and/or uterine function. We hypothesized that variation in CYP17A1 and/or IFIT1 could contribute to the risk of endometriosis and may account for some of the linkage signal on chromosome 10q. We genotyped 17 single nucleotide polymorphisms (SNPs) in the CYP17A1 and IFIT1 genes including SNP rs743572 previously associated with endometriosis in 768 endometriosis cases and 768 unrelated controls. We found no evidence for association between endometriosis and individual SNPs or SNP haplotypes in CYP17A1 and IFIT1. Common variation in these genes does not appear to be a major contributor to endometriosis susceptibility in our Australian sample.

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10号染色体上CYP17A1和IFIT1基因的常见变异与子宫内膜异位症的风险无关

子宫内膜异位症是一种涉及多种易感基因和环境因素的复杂疾病。我们之前对子宫内膜异位症的研究发现染色体10q上有一个显著的连锁区域。两个生物学候选基因(CYP17A1和IFIT1)位于染色体10q上，以前被认为与子宫内膜异位症和/或子宫功能有关。我们假设CYP17A1和/或IFIT1的变异可能会增加子宫内膜异位症的风险，并可能解释染色体10q上的一些连锁信号。我们对CYP17A1和IFIT1基因的17个单核苷酸多态性(SNP)进行了基因分型，其中包括768例子宫内膜异位症患者和768例无关对照中先前与子宫内膜异位症相关的SNP rs743572。我们没有发现证据表明子宫内膜异位症与CYP17A1和IFIT1的单个SNP或SNP单倍型之间存在关联。在我们的澳大利亚样本中，这些基因的共同变异似乎不是子宫内膜异位症易感性的主要因素。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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The open reproductive science journal

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