FSH-R polymorphisms in women with infertility

卵泡刺激素通过诱导芳香化酶活性刺激颗粒细胞雌激素的产生，在卵泡发生过程中起着至关重要的作用。FSH的作用由FSH受体介导，FSH受体属于G蛋白偶联受体大家族。这些受体的特征是跨膜结构域，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2 p2 l至16。在促性腺激素正常、雌激素正常的无排卵性不孕症（世界卫生组织II类）中，卵巢对外源性FSH给药的反应在患者之间差异很大。在最近的一项研究中，在无排卵不孕妇女中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）预测。最近，Sudo等报道了一个多囊卵巢综合征（PCOS）患者队列中Ala/Thr 307和Asn/Ser 680基因型的显著增加。在促性腺激素正常的无排卵性不孕妇女中，307位多态性的总体频率分布为Ala/Ala 1%，680位点多态性中，Asn/Asn占66%，Asn/Ser占23%，Ser/Ser占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.