Haplotype analysis of VEGF gene polymorphisms in polycystic ovary syndrome

Abstract

This study evaluated the association of polymorphisms of VEGF (endothelial vascular growth factor) gene + 936C/T (rs3025039), 1154 G/A (rs 1570360) and −2578 C/A (rs 699947) in patients with polycystic ovary syndrome (PCOS) and to perform the haplotypes formed by the alleles in the Brazilian population. A total of 110 women without PCOS and 112 women with PCOS were included in the study. Genotyping analyses were performed using the PCR-RFLP assays (rs 3025039 and rs 699947) and by allelic discrimination using the real-time PCR technique (rs 1570360). In the univariate analysis, we observed a significant difference between the groups for the polymorphism rs 1570360 and this polymorphism presented statistical differences between the groups for the recessive model (p = .04). The frequency of the T-G-C haplotype showed a statistically significant difference between women with PCOS and controls (p = .05). The −2578 A/C polymorphism was more frequent in the control group, which may be associated with a protective characteristic for the PCOS manifestation. In the sample analysis, polymorphism rs 1570360 is associated with PCOS and the T-G-C haplotype could be associated with protective factors.

摘要

本研究评估了VEGF(血管内皮生长因子)基因+ 936C/T (rs3025039)、1154G/A (rs 1570360)和-2578C/A (rs 699947)的多态性与多囊卵巢综合征(PCOS)患者的相关性, 并对巴西人群中的等位基因形成的单倍型进行分析。本研究共纳入110例无PCOS的女性和112例有PCOS的女性。用聚合酶链反应-限制性片段长度多态性分析(rs 3025039和rs 699947)和并用实时定量聚合酶链反应技术进行等位基因识别(rs 1570360)。在单因素分析中, 我们观察到rs 1570360多态性组与隐性模型组之间存在显著性差异(p=.04)。T-G-C单倍型的频率在PCOS患者和对照组之间在统计学上有显著差异(p=.05)。在对照组中-2578A/C多态性更为常见, 这可能与PCOS表现的保护性特征有关。在样本分析中, 多态性rs 1570360与PCOS有关, T-G-C单倍型可能与保护因子有关。

The Chinese abstracts are translated by Prof. Dr. Xiangyan Ruan and her team: Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

Keywords:

• Polycystic ovary syndrome
• genetic polymorphism
• vascular endothelial growth factors
• haplotype
• genetics

Acknowledgments

The authors thank Evaldo Maia for the collection of blood samples.

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

Conselho Nacional de Desenvolvimento Científico e Tecnológico (476423/2013–9) and Fundação de Amparo à Pesquisa do Estado de Minas Gerais -FAPEMIG (Process APQ 03996–10).