Department of Internal Medicine, Medical University of Graz, Auenbruggerplatz 15, 8036 Graz, Austria.
Eur J Endocrinol. 2011 May;164(5):741-9. doi: 10.1530/EJE-11-0134. Epub 2011 Mar 9.
Women with polycystic ovary syndrome (PCOS) frequently suffer from metabolic disturbances including insulin resistance (IR), which might be related to vitamin D metabolism. We aimed to investigate the association of polymorphisms in the vitamin D receptor (VDR) gene as well as vitamin D level-associated genes with metabolic and endocrine parameters in PCOS women. Moreover, we examined whether there are associations with PCOS susceptibility.
Metabolic, endocrine, and anthropometric measurements and oral glucose tolerance tests were performed in 545 PCOS and 145 control women. Genotyping of VDR (Cdx2, Bsm-I, Fok-I, Apa-I, and Taq-I), GC, DHCR7, and CYP2R1 polymorphisms was performed.
25-Hydroxyvitamin D (25(OH)D) levels showed significant negative correlation with IR and positive correlation with insulin sensitivity (P<0.05 for all) in PCOS women. In PCOS women, the VDR Cdx2 'AA' genotype was associated with lower fasting insulin (P=0.039) and homeostatic model assessment-IR (P=0.041) and higher quantitative insulin-sensitivity check index (P=0.012) and MATSUDA index (P=0.003). The VDR Apa-I 'AA' genotype was associated with lower testosterone (P=0.028) levels. In PCOS women, 170 women (31.2%) presented with 25(OH)D levels <20 ng/ml. PCOS women carrying the GC 'GG' genotype and the DHCR7 'GG' genotype had a significantly higher risk for 25(OH)D levels <20 ng/ml (OR 2.53 (1.27-5.06), P=0.009, and OR 2.66 (1.08-6.55), P=0.033 respectively) compared with PCOS women carrying the GC 'TT' genotype and DHCR 'TT' genotype in multivariate analyses. We observed no association of genetic variations and PCOS susceptibility.
VDR and vitamin D level-related variants are associated with metabolic and endocrine parameters including 25(OH)D levels in PCOS women.
患有多囊卵巢综合征（PCOS）的女性常伴有胰岛素抵抗（IR）等代谢紊乱，这可能与维生素 D 代谢有关。我们旨在研究维生素 D 受体（VDR）基因多态性以及维生素 D 水平相关基因与 PCOS 女性代谢和内分泌参数的相关性。此外，我们还研究了这些基因与 PCOS 易感性的相关性。
对 545 名 PCOS 女性和 145 名对照女性进行了代谢、内分泌和人体测量学测量以及口服葡萄糖耐量试验。对 VDR（Cdx2、Bsm-I、Fok-I、Apa-I 和 Taq-I）、GC、DHCR7 和 CYP2R1 基因多态性进行了基因分型。
在 PCOS 女性中，25-羟维生素 D（25(OH)D）水平与 IR 呈显著负相关，与胰岛素敏感性呈正相关（所有 P 值均<0.05）。在 PCOS 女性中，VDR Cdx2 'AA' 基因型与空腹胰岛素（P=0.039）和稳态模型评估-IR（P=0.041）降低以及定量胰岛素敏感性检查指数（P=0.012）和 MATSUDA 指数（P=0.003）升高相关。VDR Apa-I 'AA' 基因型与睾酮（P=0.028）水平降低相关。在 PCOS 女性中，170 名女性（31.2%）25(OH)D 水平<20ng/ml。GC 'GG' 基因型和 DHCR7 'GG' 基因型的 PCOS 女性 25(OH)D 水平<20ng/ml 的风险明显高于携带 GC 'TT' 基因型和 DHCR 'TT' 基因型的 PCOS 女性（OR 2.53（1.27-5.06），P=0.009 和 OR 2.66（1.08-6.55），P=0.033）。在多变量分析中，我们没有观察到遗传变异与 PCOS 易感性之间的关联。
VDR 和维生素 D 水平相关的变异与 PCOS 女性的代谢和内分泌参数有关，包括 25(OH)D 水平。
