BACKGROUND: Graves' disease (GD) is a consequence of genetic and environmental factors. Vascular endothelial growth factor (VEGF) is a strong angiogenic and mitogenic factor, which plays a key role in lymphocyte infiltration, and hypervascularization in the thyroid gland of patients with GD. AIM: The aim of this study is to investigate the relationship between GD and A-2578C, T-460C and G+405C single nucleotide polymorphisms (SNPs) of VEGF gene, as well as to evaluate whether there are any relationships between genotypes and some clinical/laboratory parameters of GD. METHODS: We analyzed the genotype and allele distributions of the above mentioned SNPs in 167 patients with established GD diagnosis and 203 healthy controls by real-time PCR combined with melting curve analysis using fluorescence-labeled hybridization probes. RESULTS: The distribution of VEGF A-2578C and T-460C genotypes and allele frequencies in control and GD groups were not significantly different. With regard to the +405 polymorphism, the frequency of C allele was 1.8-fold increased in GD patients compared to controls, and the CC genotype was associated with a 4.6-fold increased disease risk. There was no relationship between some clinical/laboratory parameters with G+405C polymorphism. However, in -2578C allele carrying GD patients the anti-thyroid antibody levels were increased according to wild homozygous. Additionally, -2578C and -460T alleles were related with early (at age before 40) disease onset. CONCLUSION: VEGF +405 polymorphism may be a risk factor for GD, while the -2578 SNP is related with increased autoantibody production.
BACKGROUND:Graves' disease (GD) is a consequence of genetic and environmental factors. Vascular endothelial growth factor (VEGF) is a strong angiogenic and mitogenic factor, which plays a key role in lymphocyte infiltration, and hypervascularization in the thyroid gland of patients with GD. AIM: The aim of this study is to investigate the relationship between GD and A-2578C, T-460C and G+405C single nucleotide polymorphisms (SNPs) of VEGF gene, as well as to evaluate whether there are any relationships between genotypes and some clinical/laboratory parameters of GD. METHODS: We analyzed the genotype and allele distributions of the above mentioned SNPs in 167 patients with established GD diagnosis and 203 healthy controls by real-time PCR combined with melting curve analysis using fluorescence-labeled hybridization probes. RESULTS: The distribution of VEGFA-2578C and T-460C genotypes and allele frequencies in control and GD groups were not significantly different. With regard to the +405 polymorphism, the frequency of C allele was 1.8-fold increased in GDpatients compared to controls, and the CC genotype was associated with a 4.6-fold increased disease risk. There was no relationship between some clinical/laboratory parameters with G+405C polymorphism. However, in -2578C allele carrying GDpatients the anti-thyroid antibody levels were increased according to wild homozygous. Additionally, -2578C and -460T alleles were related with early (at age before 40) disease onset. CONCLUSION:VEGF +405 polymorphism may be a risk factor for GD, while the -2578 SNP is related with increased autoantibody production.
Authors: A Molinaro; P Orlandi; F Niccolai; P Agretti; G De Marco; E Ferrarini; C Di Cosmo; P Vitti; P Piaggi; T Di Desidero; G Bocci; M Tonacchera Journal: J Endocrinol Invest Date: 2019-08-02 Impact factor: 4.256