卵泡刺激素受体基因多态性对女性卵巢功能影响的研究进展

卵泡刺激素(FSH)是人类重要的生殖激素,被广泛应用于体外受精超促排卵.然而,在临床上发现使用FSH进行卵巢刺激的不孕症患者其卵巢反应不一.FSH通过与卵泡刺激素受体(FSHR)结合介导其生理功能,目前在卵泡刺激素受体基因中发现超过900个SNP位点,其中一些SNP位点可能与FSH刺激引起的卵巢反应差异相关,在辅助生殖超促排卵过程中应该考虑这些SNPs对于卵巢功能的影响.通过预测疾病的遗传因素,为即将进行卵巢刺激的患者测定其基因多态性,以此制定个体化的卵巢刺激方案,达到优化不孕症治疗的临床目的.本文从遗传药理学角度,综述卵泡刺激素受体基因多态性对女性生殖功能的影响,探讨其临床意义.

Effects of polymorphisms in follicle stimulating hormone receptor genes on female reproductive function

Follicle stimulating hormone （FSH） is a glycoprotein hormone played an es- sential role in reproduction and widely used in the treatment of infertility. However, in the as- sisted reproductive technology programs, the re- sponse of ovulating women to exogenous FSH is quite variable in individuals. FSH action is medi- ated by the FSH receptor （FSHR）. More than 900 polymorphisms of FSHR gene are known, it has been previously reported that SNPs of FSHR may be related to the response of the patients to FSH stimulation and should, therefore, be con- sidered in assessment of efficacy in controlled o- varian hyperstimulation during assisted repro- duction techniques in women. The aim of thesestudies would be the prediction of the genetic causes of diseases to enable an individual clinical setting according to the patient＇s genetic back- ground undergoing FSH stimulation. In this re- view we discuss the latest information about the effects of polymorphisms of the FSHR genes on reproductive functions of female, and discuss their clinical implications.