Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, 1417613151, Tehran, Iran.
J Assist Reprod Genet. 2011 Mar;28(3):225-32. doi: 10.1007/s10815-010-9506-4. Epub 2010 Nov 17.
The purpose of this study was to evaluate the associations between polymorphisms in vitamin D receptor (VDR), parathyroid hormone (PTH), calcium sensing receptor (CASR), insulin receptor (INSR), and adiponectin (ADIPOQ) genes and biochemical characteristics of women with polycystic ovary syndrome (PCOS).
Serum levels of LH, FSH, estradiol, testosterone, prolactin, SHBG, glucose, IGF-1, IGFBP-1, calcium, phosphorus, PTH, 25(OH)D, and 1,25(OH)(2) D were measured in 56 women with PCOS. Furthermore, genotyping five, one, one, two, and two polymorphisms of the VDR, PTH, CASR, INSR, and ADIPOQ genes, respectively, were performed.
The VDR TaqI "CC" genotype was associated with elevated serum levels of LH (p = 0.011). There were significant associations between decreased levels of SHBG and both VDR BsmI "GG" (p = 0.009) and ADIPOQ BsmI "CC" (p = 0.016) genotypes. Furthermore, patients with CaSR Hin1I "TG" genotype showed higher HoMA-IR (p = 0.008). All these associations remained significant after Bonferroni correction. In addition, phosphorus correlated negatively with estradiol (r = -0.298, P = 0.026) and positively with glucose (r = 0.287, P = 0.032).
These data indicated for the first time that it is possible that the VDR and CASR gene variants through their effects on LH and SHBG levels, and insulin resistance are involved in pathogenesis of PCOS.
本研究旨在评估维生素 D 受体(VDR)、甲状旁腺激素(PTH)、钙敏感受体(CASR)、胰岛素受体(INSR)和脂联素(ADIPOQ)基因多态性与多囊卵巢综合征(PCOS)女性生化特征之间的关系。
对 56 名 PCOS 患者进行血清 LH、FSH、雌二醇、睾酮、催乳素、SHBG、血糖、IGF-1、IGFBP-1、钙、磷、PTH、25(OH)D 和 1,25(OH)(2)D 水平检测,并分别对 VDR、PTH、CASR、INSR 和 ADIPOQ 基因的 5 个、1 个、1 个、2 个和 2 个多态性进行基因分型。
VDR TaqI“CC”基因型与血清 LH 水平升高相关(p = 0.011)。VDR BsmI“GG”(p = 0.009)和 ADIPOQ BsmI“CC”(p = 0.016)基因型与 SHBG 水平降低有关。此外,CaSR Hin1I“TG”基因型患者的 HoMA-IR 更高(p = 0.008)。所有这些关联在 Bonferroni 校正后仍然显著。此外,磷与雌二醇呈负相关(r = -0.298,P = 0.026),与血糖呈正相关(r = 0.287,P = 0.032)。
这些数据首次表明,VDR 和 CASR 基因变异可能通过影响 LH 和 SHBG 水平以及胰岛素抵抗而参与 PCOS 的发病机制。