Genetic interaction analysis of VEGF-A rs3025039 and VEGFR-2 rs2071559 identifies a genetic profile at higher risk to develop nodular goiter.

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Tytuł:: Genetic interaction analysis of VEGF-A rs3025039 and VEGFR-2 rs2071559 identifies a genetic profile at higher risk to develop nodular goiter.
Autorzy:: Molinaro A; Department of Clinical and Experimental Medicine, Endocrinology Section, University of Pisa, Via Paradisa 2, Cisanello, 56124, Pisa, Italy.
Orlandi P; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Niccolai F; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Agretti P; Laboratory of Chemistry and Endocrinology, University Hospital of Pisa, Pisa, Italy.
De Marco G; Department of Clinical and Experimental Medicine, Endocrinology Section, University of Pisa, Via Paradisa 2, Cisanello, 56124, Pisa, Italy.
Ferrarini E; Department of Clinical and Experimental Medicine, Endocrinology Section, University of Pisa, Via Paradisa 2, Cisanello, 56124, Pisa, Italy.
Di Cosmo C; Department of Clinical and Experimental Medicine, Endocrinology Section, University of Pisa, Via Paradisa 2, Cisanello, 56124, Pisa, Italy.
Vitti P; Department of Clinical and Experimental Medicine, Endocrinology Section, University of Pisa, Via Paradisa 2, Cisanello, 56124, Pisa, Italy.
Piaggi P; Department of Energy and Systems Engineering, University of Pisa, Pisa, Italy.
Di Desidero T; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Bocci G; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Tonacchera M; Department of Clinical and Experimental Medicine, Endocrinology Section, University of Pisa, Via Paradisa 2, Cisanello, 56124, Pisa, Italy. .
Źródło:: Journal of endocrinological investigation [J Endocrinol Invest] 2020 Feb; Vol. 43 (2), pp. 149-155. Date of Electronic Publication: 2019 Aug 02.
Typ publikacji:: Journal Article
Język:: English
Imprint Name(s):: Publication: 2014- : Berlin : Springer
Original Publication: Milano, Published for the Italian Society of Endocrinology by Editrice Kurtis.
MeSH Terms:: Genetic Profile*
Epistasis, Genetic/*genetics
Genetic Predisposition to Disease/*genetics
Goiter, Nodular/*genetics
Vascular Endothelial Growth Factor A/*genetics
Vascular Endothelial Growth Factor Receptor-2/*genetics
Adult ; Aged ; Female ; Genetic Predisposition to Disease/epidemiology ; Goiter, Nodular/diagnosis ; Goiter, Nodular/epidemiology ; Humans ; Italy/epidemiology ; Male ; Middle Aged ; Risk Factors
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Contributed Indexing:: Keywords: Genetic interaction analysis; Goiter; HIF-1α; Multifactor dimensionality reduction methodology; Polymorphisms; VEGF; VEGFR-2
Substance Nomenclature:: 0 (VEGFA protein, human)
0 (Vascular Endothelial Growth Factor A)
EC 2.7.10.1 (KDR protein, human)
EC 2.7.10.1 (Vascular Endothelial Growth Factor Receptor-2)
Entry Date(s):: Date Created: 20190804 Date Completed: 20201105 Latest Revision: 20201105
Update Code:: 20240105
DOI:: 10.1007/s40618-019-01092-9
PMID:: 31376092
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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.

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