Abstract
BackgroundIgA nephropathy (IgAN) and nephritis in Systemic Lupus Erythematosus (SLE) are two common forms of glomerulonephritis in which genetic findings are of importance for disease development. We have recently reported an association of IgAN with variants of TGFB1. In several autoimmune diseases, particularly in SLE, IRF5, STAT4 genes and TRAF1-C5 locus have been shown to be important candidate genes. The aim of this study was to compare genetic variants from the TGFB1, IRF5, STAT4 genes and TRAF1-C5 locus with susceptibility to IgAN and lupus nephritis in two Swedish cohorts.Patients and MethodsWe genotyped 13 single nucleotide polymorphisms (SNPs) in four genetic loci in 1252 DNA samples from patients with biopsy proven IgAN or with SLE (with and without nephritis) and healthy age- and sex-matched controls from the same population in Sweden.ResultsGenotype and allelic frequencies for SNPs from selected genes did not differ significantly between lupus nephritis patients and SLE patients without nephritis. In addition, haplotype analysis for seven selected SNPs did not reveal a difference for the SLE patient groups with and without nephritis. Moreover, none of these SPNs showed a significant difference between IgAN patients and healthy controls. IRF5 and STAT4 variants remained significantly different between SLE cases and healthy controls. In addition, the data did not show an association of TRAF1-C5 polymorphism with susceptibility to SLE in this Swedish population.ConclusionOur data do not support an overlap in genetic susceptibility between patients with IgAN or SLE and reveal no specific importance of SLE associated SNPs for the presence of lupus nephritis.
Highlights
Several common gene variations have recently been shown to associate with different autoimmune diseases, Systemic Lupus Erythematosus (SLE)
Our data do not support an overlap in genetic susceptibility between patients with IgA nephropathy (IgAN) or SLE and reveal no specific importance of SLE associated Some nucleotide polymorphisms (SNPs) for the presence of lupus nephritis
Interferon regulatory factor 5 (IRF5), Signal transducers and activator of transcription 4 (STAT4) and TRAF1-C5 polymorphisms did not show an association with susceptibility and/or severity of IgAN
Summary
Several common gene variations have recently been shown to associate with different autoimmune diseases, Systemic Lupus Erythematosus (SLE). Lupus nephritis and IgAN are both chronic renal diseases that are classified in the ‘‘predominant’’ inflammatory group, based on morphological similarities [20,21]. We hypothesized that it may be an overlap in genetic susceptibility between lupus nephritis and IgAN and that there could be specific genetic makers associated to the development of nephritis in SLE patients. IgA nephropathy (IgAN) and nephritis in Systemic Lupus Erythematosus (SLE) are two common forms of glomerulonephritis in which genetic findings are of importance for disease development. The aim of this study was to compare genetic variants from the TGFB1, IRF5, STAT4 genes and TRAF1-C5 locus with susceptibility to IgAN and lupus nephritis in two Swedish cohorts
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