Mohiyiddeen Lamiya, Nardo Luciano G
Department of Reproductive Medicine, St. Mary's Hospital, Manchester, UK.
Hum Fertil (Camb). 2010;13(2):72-8. doi: 10.3109/14647271003632322.
The ovarian response to follicle stimulating hormone (FSH) stimulation in assisted conception cycles is variable. Although it would be beneficial to predict accurately the response of patients to FSH, to date no absolute predictors of ovarian performance have been identified. Recently, there have been a number of studies on the effect of single-nucleotide polymorphisms (SNPs) in the FSH receptor gene and its predictability in ovarian response to FSH stimulation. Several reports have shown that two very common SNPs at positions 307 and 680 in exon 10 of the FSH receptor gene are associated with ovarian response in IVF. The SNPs in exon 10 result in four discrete allelic variants characterised by the amino acid combinations Thr(307)-Asn(680), Ala(307)-Ser(680), Ala(307)-Asn(680) and Thr(307)-Ser(680). Because Thr(307) is almost always in linkage disequilibrium with Asn(680), and Ala(307) almost always with Ser(680), most studies are focussed solely on position 680. Some authors have shown predictability of ovarian response to FSH stimulation in patients with different alleles, while others have refuted this finding. In vitro models have not shown any difference in response among various alleles. Most of the available studies are retrospective, observational. Until now, there is no clear clinical benefit in the screening for SNP before IVF treatment. However, there is the prospect of devising mathematical models using a group of polymorphisms to provide an important tool for improving ovulation induction, especially in poor responders.
在辅助生殖周期中，卵巢对促卵泡激素（FSH）刺激的反应存在差异。尽管准确预测患者对FSH的反应会很有益处，但迄今为止，尚未确定卵巢功能的绝对预测指标。最近，有许多关于促卵泡激素受体基因单核苷酸多态性（SNP）的影响及其对FSH刺激的卵巢反应预测性的研究。几项报告显示，促卵泡激素受体基因第10外显子中307和680位点的两个非常常见的SNP与体外受精中的卵巢反应相关。第10外显子中的SNP产生了四种离散的等位基因变体，其特征在于氨基酸组合苏氨酸（307）-天冬酰胺（680）、丙氨酸（307）-丝氨酸（680）、丙氨酸（307）-天冬酰胺（680）和苏氨酸（307）-丝氨酸（680）。由于苏氨酸（307）几乎总是与天冬酰胺（680）处于连锁不平衡状态，而丙氨酸（307）几乎总是与丝氨酸（680）处于连锁不平衡状态，大多数研究仅关注680位点。一些作者已经证明了不同等位基因患者对FSH刺激的卵巢反应具有可预测性，而另一些作者则反驳了这一发现。体外模型并未显示出不同等位基因之间的反应有任何差异。大多数现有研究都是回顾性的观察性研究。到目前为止，在体外受精治疗前进行SNP筛查并没有明确的临床益处。然而，利用一组多态性设计数学模型有望为改善排卵诱导提供重要工具，尤其是对反应不良者。
