Polymorphisms in vitamin D receptor gene, but not vitamin D levels, are associated with polycystic ovary syndrome in Brazilian women

Abstract

This study aimed to investigate the association between vitamin D (VitD) levels, polymorphisms in VDR gene (ApaI, BsmI, FokI, and TaqI) and the polycystic ovary syndrome (PCOS) in a group of Brazilian women. A total of 100 patients with PCOS and 100 control women were included. The quantification of 25-hydroxyvitamin D (25(OH)D) was performed in high-performance liquid chromatography (HPLC). Polymorphisms on VDR gene were performed by PCR-RFLP. The BsmI AG genotype was more frequent in PCOS group, while the GG genotype was more frequent in the control group (p = .007). The frequency of the Taql CC genotype was higher in PCOS group, while the CT genotype was the most frequent in the control group (p = .021). Mean serum VitD levels were similar between the groups. However, there was a negative correlation between VitD levels and Ferriman-Gallwey score (p = .031, r = −.260) in the PCOS group. The TaqI and BsmI polymorphisms were associated with PCOS. Moreover, VitD levels are associated with the clinical hyperandrogenism. The data suggest the role of VitD in PCOS development and its complications.

摘要

这项研究旨在研究维生素D（VitD）水平, VDR基因（ApaI, BsmI, FokI和TaqI）的多态性与一组巴西女性的多囊卵巢综合征（PCOS）之间的关联。研究共纳入100名PCOS患者和100名对照女性。在高效液相色谱（HPLC）中进行25-羟基维生素D（25（OH）D）的定量。通过PCR-RFLP进行VDR基因的多态性检测。BOSI AG基因型在PCOS组中更常见, 而GG基因型在对照组中更常见（p =0 .007）。PCOS组Taql CC基因型频率较高, 而对照组CT基因型频率最高（p = 0.021）。各组之间的平均血清VitD水平相似。然而, PCOS组的VitD水平与Ferriman-Gallwey评分（p = 0.031, r = - 0.260）之间存在负相关。TaqI和BsmI多态性与PCOS相关。此外, VitD水平与临床雄激素过多相关。 数据表明了VitD在PCOS发展及其并发症中的作用。

Keywords:

• Polycystic ovary syndrome
• vitamin D
• VDR
• polymorphism
• hyperandrogenism

Acknowledgments

FMR and KBG are grateful to CNPq Research Fellowship.

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

This study was funded by Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq), Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES), and Fundação de Amparo à Pesquisa do Estado de Minas Gerais (FAPEMIG).