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Genetic interaction analysis of VEGF-A rs3025039 and VEGFR-2 rs2071559 identifies a genetic profile at higher risk to develop nodular goiter.
Journal of Endocrinological Investigation ( IF 5.4 ) Pub Date : 2019-08-02 , DOI: 10.1007/s40618-019-01092-9
A Molinaro 1 , P Orlandi 2 , F Niccolai 2 , P Agretti 3 , G De Marco 1 , E Ferrarini 1 , C Di Cosmo 1 , P Vitti 1 , P Piaggi 4 , T Di Desidero 2 , G Bocci 2 , M Tonacchera 1
Affiliation  

CONTEXT Nodular goiter in patients from areas of iodine deficiency is due to the growth of follicular and endothelial cells, involving different vascular-related growth factors in its pathogenesis. OBJECTIVE The aim of our study was to examine the association of known single polymorphisms of vascular endothelial growth factor-A [VEGF-A], VEGF receptor-2 [VEGFR-2] and hypoxia-inducible factor-1α [HIF-1α] genes or their genetic interactions with the risk of nodular goiter development. PATIENTS AND METHODS 116 normal subjects, without any thyroid disease, and 108 subjects with nodular goiter [subjects with goiter and at least one thyroid nodule of > 1 cm of maximum size and in absence of signs of autoimmunity] were selected from a homogeneous population living in a mild iodine deficiency geographic area. Analyses were performed on germline DNA obtained from blood samples and VEGF-A rs3025039, VEGFR-2 rs2071559, and HIF-1αrs11549465 SNPs were investigated by real-time PCR technique. The multifactor dimensionality reduction [MDR] methodology was applied to investigate the genetic interaction between SNPs. Hardy-Weinberg equilibrium was performed. RESULTS None of the studied polymorphisms were individually associated with a higher risk to develop nodular goiter [P > 0.05]. The combination of the VEGF-A rs3025039 and VEGFR-2 rs2071559 polymorphisms had the highest accuracy of 0.58 [P = 0.018] and the interaction of some genotypes was significantly associated with the risk of nodular goiter development. CONCLUSIONS Our results support a genetic interaction between the VEGF-A rs3025039 and VEGFR-2 rs2071559 polymorphisms as a predictor of the risk to develop nodular goiter in subjects coming from an area with mild iodine deficiency.

中文翻译:

VEGF-A rs3025039和VEGFR-2 rs2071559的遗传相互作用分析确定了发生结节性甲状腺肿的较高风险的遗传特征。

背景碘缺乏地区患者的结节性甲状腺肿是由于卵泡和内皮细胞的生长,在其发病机理中涉及不同的血管相关生长因子。目的我们的研究目的是检查血管内皮生长因子-A [VEGF-A],VEGF受体-2 [VEGFR-2]和缺氧诱导因子-1α[HIF-1α]基因的已知单一多态性的关联或它们的遗传相互作用与结节性甲状腺肿发展的风险。患者与方法从居住在同质人群中的116例正常受试者,无甲状腺疾病,有108例结节性甲状腺肿[有甲状腺肿且至少有一个最大结节大于1厘米且无自身免疫迹象的甲状腺结节的受试者]。在轻度缺碘地区。对从血液样品中获得的种系DNA进行了分析,并通过实时PCR技术研究了VEGF-A rs3025039,VEGFR-2 rs2071559和HIF-1αrs11549465SNP。应用多因素降维[MDR]方法研究SNP之间的遗传相互作用。进行了Hardy-Weinberg平衡。结果研究的多态性没有一个单独与发生结节性甲状腺肿的较高风险相关[P> 0.05]。VEGF-A rs3025039和VEGFR-2 rs2071559多态性的组合的最高准确度为0.58 [P = 0.018],某些基因型的相互作用与结节性甲状腺肿发生的风险显着相关。
更新日期:2020-01-21
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