FSH-R polymorphisms in women with infertility

促卵泡激素通过诱导芳香酶活性刺激颗粒细胞雌激素的产生，在卵泡形成过程中起着至关重要的作用。FSH的作用是由FSH受体介导的，FSH受体属于g蛋白偶联受体大家族。这些受体的特征是一个跨膜结构域，由七个跨膜α-螺旋组成，由三个细胞外环和三个细胞内环连接。FSH受体基因位于染色体2p2l ~ 16。在促性腺激素正常雌激素无排卵性不孕症（世界卫生组织II类）中，卵巢对外源性促卵泡刺激素的反应在患者中有很大差异。在最近的一项研究中，无排卵性不孕症妇女的促性腺激素诱导排卵的个体FSH反应剂量可以根据初始筛选特征，如初始FSH血清水平来预测。最近对lVF患者的观察表明，FSH受体基因型与外源性FSH的不同需求有关。最近，Sudo等人报道了Ala/Thr 307和Asn/Ser 680基因型在PCOS女性大队列中的显著增加。在促性腺激素正常的无排卵性不孕妇女中，307位点多态性的总体频率分布为Ala/Ala 1%， Ala/Thr 23%, Thr/Thr 66%；Asn/Asn多态性66%，Asn/Ser多态性23%，Ser/Ser多态性1%。

Follicle-stimulating hormone plays a crucial role during folliculogenesis by stimulating granulose-cell estrogen production through induction of aromatase activity. The action of FSH is mediated by the FSH receptor, which belongs to the large family of G-protein-coupled receptors. These receptors are characterized by a transmembrane domain consisting of seven membrane transversing α-helices connected by three extracellular and three intracellular loops. The FSH receptor gene is located at chromosome 2p2l to 16.In normogonadotropic normoestrogenic anovulatory infertility (World Health Organization class II), the response of the ovary to exogenous FSH administration varies considerably among patients. In a recent study, the individual FSH response dose for gonadotropin induction of ovulation in anovulatory infertile women could be predicted on the basis of initial screening characteristics, such as the initial FSH serum level. Recent observations in patients undergoing lVF suggest that the FSH receptor genotype is associated with different requirements for exogenous FSH.Recently, Sudo et al. reported a significant increase in the Ala/Thr 307 and Asn/Ser 680 genotype in a large cohort of women with PCOS.In normogonadotropic anovulatory infertile women, the overall frequency distribution for polymorphism at position 307 was 1% for Ala/Ala, 23% for Ala/Thr, and 66% for Thr/Thr ; for polymorphism at position 680, 66% for Asn/Asn, 23% for Asn/Ser, and 1% for Ser/Ser.