Apolipoprotein E polymorphisms and spontaneous pregnancy loss in patients with endometriosis
Apolipoprotein E polymorphisms and spontaneous pregnancy loss in patients with endometriosis
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DOI：
10.1093/molehr/gas004
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发表时间：
2012-07-01
影响因子：
4
通讯作者：
Acevedo, Summer F.
中科院分区：
文献类型：
--
作者：
Collazo, Madeline S.;Porrata-Doria, Tirtsa;Acevedo, Summer F.
子宫内膜异位症影响10%的育龄妇女，其中许多人报告自发性流产（SPL）率很高。我们研究了参与脂蛋白代谢的载脂蛋白E（APOE）基因多态性是否与子宫内膜异位症和/或子宫内膜异位症相关不孕症相关。我们对手术证实患有子宫内膜异位症的妇女（n = 345）和没有手术证据的妇女（n = 266）进行了一项横断面遗传关联研究。APOE多态性基因分型（？2、？3，？4)采用聚合酶链反应-限制性片段长度多态性，然后通过凝胶电泳观察特异性图谱。使用Pearsons（2）检验和风险分析评估基因型和等位基因频率差异的统计学显著性。总的来说，我们发现APOE基因型与子宫内膜异位症的诊断之间没有关联。然而，子宫内膜异位症患者报告至少一个SPL的可能性是三倍？2个携带者和2倍的可能性？4个载体。与之相比？3携带者，子宫内膜异位症患者是谁？2携带者和至少有一个活产报告的SPL率的四倍，而？4名携带者报告SPL的可能性低0.4倍。我们的数据表明，在子宫内膜异位症患者中，APOE等位基因频率和SPL之间可能存在相关性，这似乎与不孕症相关的机制无关，这是一个值得进一步研究的有趣观察。
Endometriosis affects 10 of women during their reproductive years, many of whom report high rates of spontaneous pregnancy loss (SPL). We examined whether gene polymorphisms in apolipoprotein E (APOE), which is involved in lipoprotein metabolism, are associated with endometriosis and/or endometriosis-associated infertility. We conducted a cross-sectional genetic association study of women surgically confirmed to have endometriosis (n 345) and no surgical evidence of the disease (n 266). Genotyping of APOE polymorphism (?2, ?3, ?4) was conducted by polymerase chain reactionrestriction fragment length polymorphism followed by visualization of specific patterns by gel electrophoresis. Statistical significance of differences in genotype and allelic frequencies was assessed using Pearsons (2) test and Risk analysis. Overall, we found no association between APOE genotype and diagnosis of endometriosis. However, patients with endometriosis who reported at least one SPL were three times more likely to be ?2 carriers and 2-fold less likely to be ?4 carriers. Compared with ?3 carriers, patients with endometriosis who were ?2 carriers and had at least one live birth reported four times the rate of SPL, while ?4 carriers were 0.4-fold less likely to report an SPL. Our data suggest that there may be an association between APOE allelic frequency and SPL in patients with endometriosis, which appears to be independent of mechanisms associated with infertility, an intriguing observation that deserves further investigation.