Department of Biomedical Science, Fertility Center, CHA University, CHA General Hospital, Seoul 135-081, Korea.
Int J Mol Med. 2010 Jul;26(1):107-12. doi: 10.3892/ijmm_00000441.
Polycystic ovary syndrome (PCOS) is an endocrine disorder and the criteria are specified by hyperandrogenism, oligomenorrhea or amenorrhea and polycystic ovary morphology. Follicle stimulating hormone (FSH) has effects on oogenesis and follicle development. Several polymorphisms of FSH receptor (FSHR) are related to primary amenorrhea, hypoplastic ovary, and high serum levels of FSH. Thus, an increase in FSH level leads to follicle maturation and proliferation of granulosa cells. The aim of this study was to determine whether Ser680Asn and Ala307Thr polymorphisms of FSHR were associated with the clinical features of PCOS in a Korean population. PCOS patients (n=235) and control subjects (n=128) in the reproductive age were recruited from the Fertility Center of CHA General Hospital in Seoul, Korea. For Ser680Asn and Ala307Thr polymorphisms in FSHR, frequency of respective genotypes was measured and statistical analysis was performed. Haplotype analysis between Ser680Asn and Ala307Thr was also performed. We found that the Ser680Asn of FSHR is associated with PCOS (p=0.0195, OR=1.66). However, in case of Ala307Thr, the variant is negligible and is not associated with PCOS (p=0.6963, OR=1.08). In haplotype analysis, Ser680Asn and Ala307Thr polymorphisms are not related with PCOS. Consequently, the Ser680Asn polymorphism of FSHR might significantly affect PCOS patients, separately from the Ala307Thr polymorphism.
多囊卵巢综合征（PCOS）是一种内分泌紊乱，其标准由高雄激素血症、月经稀发或闭经以及多囊卵巢形态学确定。卵泡刺激素（FSH）对卵子发生和卵泡发育有作用。FSH 受体（FSHR）的几种多态性与原发性闭经、卵巢发育不全和 FSH 血清水平升高有关。因此，FSH 水平的增加导致卵泡成熟和颗粒细胞增殖。本研究旨在确定 FSHR 的 Ser680Asn 和 Ala307Thr 多态性是否与韩国人群中 PCOS 的临床特征有关。从韩国首尔 CHA 总医院的生育中心招募了生育年龄的 PCOS 患者（n=235）和对照受试者（n=128）。对于 FSHR 的 Ser680Asn 和 Ala307Thr 多态性，测量了各自基因型的频率，并进行了统计分析。还进行了 Ser680Asn 和 Ala307Thr 之间的单倍型分析。我们发现 FSHR 的 Ser680Asn 与 PCOS 相关（p=0.0195，OR=1.66）。然而，在 Ala307Thr 的情况下，变体可以忽略不计，与 PCOS 无关（p=0.6963，OR=1.08）。在单倍型分析中，Ser680Asn 和 Ala307Thr 多态性与 PCOS 无关。因此，FSHR 的 Ser680Asn 多态性可能与 PCOS 患者显著相关，与 Ala307Thr 多态性无关。
