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VEGF-A 和 VEGFR-2 基因单核苷酸多态性与婴儿血管瘤风险的关系。

Single-nucleotide polymorphisms of VEGF-A and VEGFR-2 genes and risk of infantile hemangioma.

机构信息

Department of Medical Biochemistry, Medical University of Lodz, Lodz, Poland.

Department of Pediatric Surgery and Urology for Children and Youth, Medical University of Gdansk, Gdansk, Poland.

出版信息

Int J Dermatol. 2018 Oct;57(10):1201-1207. doi: 10.1111/ijd.14127. Epub 2018 Jul 9.

Abstract

BACKGROUND

Infantile hemangioma (IH) is the most common vascular tumor of childhood and infancy. It is distinguished by rapid proliferation of endothelial cells during the first year of life followed by spontaneous regression thereafter. One of the possible factors responsible for the IH development is vascular endothelial grow factor (VEGF). The purpose of this study was to evaluate the influence of selected polymorphisms in the genes coding for VEGF-A (+405 G/C, rs2010963; +936 C/T, rs3025039) and its receptor VEGFR-2 (+1416 T/A, rs1870377; -271 G/A, rs7667298) on the susceptibility to infantile hemangioma.

METHODS

We performed a case-control study of 99 Polish children hospitalized due to IH and compared them with matched healthy control subjects. The polymorphisms were ascertained through genotyping by PCR-RFLP assay, PCR-HRM, or the allelic discrimination method.

RESULTS

The study revealed a lower odds of infantile hemangioma in individuals with GG genotype or G allele for +405 G/C VEGF-A polymorphism (OR = 0.52, P = 0.023 and OR  = 0.63, P = 0.025, respectively). No association was observed for the remaining VEGF and VEGFR-2 polymorphisms and IH risk.

CONCLUSIONS

In our study, none of the investigated VEGF-A and VEGFR-2 genes polymorphisms was found to be an independent prognostic marker for infantile hemangioma. However, there is evidence that individuals carrying at least one G allele of +405 G/C VEGF-A polymorphism have significantly lower risk of IH.

摘要

背景

婴儿血管瘤(IH)是儿童和婴儿中最常见的血管肿瘤。它的特征是在生命的第一年内皮细胞快速增殖,随后自发消退。导致 IH 发展的可能因素之一是血管内皮生长因子(VEGF)。本研究旨在评估编码 VEGF-A(+405 G/C,rs2010963;+936 C/T,rs3025039)及其受体 VEGFR-2(+1416 T/A,rs1870377;-271 G/A,rs7667298)的基因中选定的多态性对婴儿血管瘤易感性的影响。

方法

我们进行了一项病例对照研究,纳入了 99 名因 IH 住院的波兰儿童,并将其与匹配的健康对照进行了比较。通过 PCR-RFLP 分析、PCR-HRM 或等位基因鉴别方法进行基因分型来确定多态性。

结果

研究发现,+405 G/C VEGF-A 多态性中 GG 基因型或 G 等位基因的个体患 IH 的几率较低(OR = 0.52,P = 0.023 和 OR = 0.63,P = 0.025)。对于其余的 VEGF 和 VEGFR-2 多态性与 IH 风险之间没有观察到关联。

结论

在我们的研究中,没有发现任何研究的 VEGF-A 和 VEGFR-2 基因多态性是婴儿血管瘤的独立预后标志物。然而,有证据表明,至少携带一个+405 G/C VEGF-A 多态性的 G 等位基因的个体患 IH 的风险显著降低。

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