Fertilitetsklinikken Sør, Telemark Hospital, Porsgrunn, Norway.
Reprod Biomed Online. 2010 Nov;21(5):616-23. doi: 10.1016/j.rbmo.2010.05.021. Epub 2010 Jun 16.
There is substantial variability in ovarian response to exogenous gonadotrophins in women undergoing ovarian stimulation for IVF. Genetic variation in signalling pathways of the ovary could influence ovarian stimulation outcome. Studies have shown a correlation between the serum concentration of anti-Müllerian hormone (AMH) and ovarian stimulation outcome. This paper present a retrospective case-controlled genetic association study designed to test the association between single nucleotide polymorphisms (SNP) in the AMH signalling pathway and two clinically important outcomes of ovarian stimulation: low and high response. Blood samples from 53 high responders, 38 low responders and 100 controls were analysed for eight SNP of interest. Odds ratios and 95% confidence intervals were estimated by a binary logistic regression model adjusting for age and body mass index. As far as is known, this is the first report on the influence of these SNP, present in approximately 19% of women, on ovarian stimulation outcome. No statistically significant association was found between any of the SNP studied and high or low response to ovarian stimulation. It seems unnecessary to detect these SNP when applying the serum concentration of AMH as a predictor of ovarian response to stimulation. Many infertile couples are treated by IVF. Part of this treatment is to pharmacologically stimulate the ovaries to develop many oocytes simultaneously. This process is called ovarian stimulation. Some women respond either too little (low responders) or too much (high responders) to ovarian stimulation. Both these situations are unfavourable to the woman. This study evaluates whether these chances of having one of these two outcomes of ovarian stimulationare influenced by variation in the gene for anti-Müllerian hormone (AMH) or its receptor. This is done by taking blood samples from three groups of patients: low responders, high responders and controls with a normal response. These blood samples were analysed to see if the variation in the genes for AMH or its receptor were different in the three groups. They were not, and so we conclude that the genetic variation that exists in the AMH and receptor signalling pathway is not a major determinant of ovarian stimulation outcome.
在接受体外受精 (IVF) 卵巢刺激的女性中，外源促性腺激素对卵巢的反应存在很大差异。卵巢信号通路的遗传变异可能会影响卵巢刺激的结果。研究表明，抗苗勒管激素 (AMH) 血清浓度与卵巢刺激结果之间存在相关性。本文介绍了一项回顾性病例对照遗传关联研究，旨在测试 AMH 信号通路中单核苷酸多态性 (SNP) 与卵巢刺激的两个临床重要结果之间的关联：低反应和高反应。对 53 名高反应者、38 名低反应者和 100 名对照者的血液样本进行了 8 个感兴趣的 SNP 分析。通过二元逻辑回归模型调整年龄和体重指数来估计比值比和 95%置信区间。据目前所知，这是第一个关于这些 SNP（约 19%的女性携带这些 SNP）对卵巢刺激结果的影响的报告。在所研究的 SNP 中，没有发现任何一个与卵巢刺激的高反应或低反应之间存在统计学显著关联。在应用 AMH 血清浓度作为刺激卵巢反应的预测指标时，似乎没有必要检测这些 SNP。许多不孕夫妇接受 IVF 治疗。治疗的一部分是通过药理学刺激卵巢同时发育许多卵子。这个过程叫做卵巢刺激。一些女性对卵巢刺激的反应要么太少（低反应者），要么太多（高反应者）。这两种情况对女性都不利。本研究评估了抗苗勒管激素 (AMH) 或其受体的基因变异是否会影响卵巢刺激的这两种结果之一的发生几率。这是通过从三组患者中采集血液样本来完成的：低反应者、高反应者和正常反应的对照者。分析这些血液样本，看 AMH 或其受体的基因变异在三组之间是否不同。结果并非如此，因此我们得出结论，AMH 和受体信号通路中的遗传变异不是卵巢刺激结果的主要决定因素。
