Abstract
BackgroundTubulointerstitial nephritis (TIN) and uveitis syndrome (TINU) are likely to be autoimmune diseases. Based on previous studies, adults with isolated idiopathic uveitis have polymorphisms in interleukin 10 (IL-10) and tumor necrosis factor α (TNF-α) genes. We aimed to evaluate the presence of IL-10 and TNF-α polymorphisms in a nationwide cohort of pediatric TIN/TINU patients.MethodsSingle nucleotide polymorphisms in IL-10 (+434T/C, +504G/T, -1082G/A, -2849C/T) and in TNFα (-308G/A, -238G/A, -857C/T) genes were genotyped in 30 well-defined pediatric patients with idiopathic TIN/TINU syndrome. Control group frequencies for these SNPs were obtained from 393 independent Finnish subjects.ResultsThe homozygous minor allele in IL-10 +434T (rs2222202) and IL-10+504G (rs3024490) was found in all patients with TIN or TINU syndrome while the frequency of these minor alleles in the control population was 44% and 23%, respectively (p <0.001). In IL-10 SNP -2849 (rs6703630) a significant difference was found with genotype TT in all patients (p = 0.004) and in subgroups with TINU syndrome (p = 0.017) and TINU syndrome with chronic uveitis (p = 0.01) compared to reference population. There were no statistical differences in any of the studied TNF-α genotypes between TIN/TINU patients and control population.ConclusionsA significant difference in the frequency of IL-10+434T and +504G alleles was found between TIN/TINU patients and control population. Genotype -2849TT was more frequently present in patients with TINU syndrome than in the reference subjects. Genetic variation in the inflammatory mediators may predispose to autoimmune nephritis and uveitis.
Highlights
Tubulointerstitial nephritis (TIN) is a relatively rare but significant cause of acute renal insufficiency (AKI) among children and adults [1]
The homozygous minor allele in interleukin 10 (IL-10) +434T and IL-10+504G was found in all patients with TIN or TINU syndrome while the frequency of these minor alleles in the control population was 44% and 23%, respectively (p
In IL-10 single nucleotide polymorphisms (SNPs) -2849 a significant difference was found with genotype TT in all patients (p = 0.004) and in subgroups with TINU syndrome (p = 0.017) and TINU syndrome with chronic uveitis (p = 0.01) compared to reference population
Summary
Tubulointerstitial nephritis (TIN) is a relatively rare but significant cause of acute renal insufficiency (AKI) among children and adults [1]. It is an inflammatory disease, possibly of autoimmune origin [2,3,4,5], primarily affecting the renal interstitium and tubular wall without significant glomerular or vascular involvement [6,7]. It can sometimes be accompanied by uveal inflammation (TINU syndrome) which is typically anterior and bilateral [8, 9]. The aim was to investigate the frequency of IL-10 and TNF-α single nucleotide polymorphisms (SNPs) in a national cohort of well-defined children and adolescents with TIN/ TINU syndrome compared to Finnish reference population
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