Abstract
Abstract Background and Aims Previously it was shown that significantly elevated serum concentration of vascular-endothelial growth factor (VEGF) and transforming growth factor β (TGF-β1) is observed in Lupus Nephritis (LN) patients, especially in those with disease exacerbation. In this study we investigated the association of selected single nucleotide polymorphisms (SNP) in TGF-β1 and VEGF genes with serum concentration of the gene product in children with LN. Method We enrolled 22 children with LN (m:f 2/20) aged 10 to 17 years. Blood samples were taken twice in every child – in remission and during exacerbation of the disease. Serum concentration of VEGF and TGF-β1 was measured using R&D Systems Quantikine ELISA “Human TGF-β1” and “VEGF” kits. DNA was analyzed by polymerase chain reaction for identification of selected SNPs – VEGF rs699947 (A/C), rs2010963 (G/C), TGF-β1 rs1800469 (G/A). Results We didn’t find any association of serum concentration of TGF-β1 with rs1800469 polymorphism in individuals with LN in exacerbation and in remission either (p>0,05). Concentration of VEGF was associated with genotypes of VEGF gene. It was significantly higher in LN patients harboring AA genotype for rs699947 comparing with those with CC+CA group of genotypes (ie carrying at least one minor allele A). This association was observed in exacerbation period (p<0,001), but not in remission (p>0,05). We compared major genotype GG and group of genotypes GC+CC (ie patients with at least one minor allele C) of VEGF gene (rs2010963). It was found that statistically significant elevation of gene product was found in individuals with group of genotypes GC+CC in exacerbation period (p=0,036). In remission concentration of the gene product didn't differ in patients with GG and GC+CC genotypes (p=0,97). VEGF gene genotypes rs699947 and rs2010963 are in high linkage disequilibrium (LD). Having analyzed combined genotypes we found that association with the gene product was the same as in rs699947 alone analysis. This may suggest functional importance of this SNP. Rs2010963 more likely to show association with the gene product due to linkage with rs699947. Conclusion There is an association between VEGF gene genotypes (rs699947 and rs2010963) and gene product serum concentration in LN pediatric patients in exacerbation period. Among two investigated loci of VEGF gene rs699947 might be considered more relevant risk marker of VEGF disfunction. No statistically significant association was found in our study for TGF-β1 gene genotypes (rs1800469) and its' product serum concentration.
Published Version
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