Polymorphisms in interleukin-4-related genes in patients with minimal change nephrotic syndrome

Abstract

Minimal change nephrotic syndrome (MCNS) in children is frequently associated with allergy and immunoglobulin E production. T helper subtype 2 cytokines, such as interleukin (IL)-4 and IL-13, may have an important role in the development of atopy. We investigated the association of genetic variations of IL-4 receptor alpha chain (IL-4Ralpha), IL-13 and signal transducer and activator of transcription 6 (STAT6) genes with MCNS. We analyzed these polymorphisms in 85 Japanese children (55 males, 30 females) with MCNS and 127 healthy controls with neither allergic nor renal diseases. Genomic DNA was extracted from peripheral blood leukocytes. The single nucleotide polymorphisms of IL-4Ralpha (Ile50Val) and IL-13 (R130Q) were detected by primer-specific polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism analysis, respectively. GT repeat polymorphism in STAT6 gene exon 1 was investigated by fragment length analysis. A significant difference in allelic frequencies in the STAT6 gene was detected between the MCNS and control groups. There was no significant difference between the two groups for genetic variations of IL-4Ralpha and IL-13 genes. We found a significant difference in IL-4Ralpha gene polymorphism between MCNS subgroups divided according to the number of relapses. These results suggested that the genetic variation in the first exon of the STAT6 gene may be associated with a predisposition to MCNS and that the genetic variation in the IL-4Ralpha gene may be associated with its clinical course.

DNA methylation changes between relapse and remission of minimal change nephrotic syndrome

“…These have included studies of the capillary loop membrane, including the podocytes [19–23], searches for secretory factors which may change the permeability of the membrane [4, 24, 25], and investigations of immunocytes as a source of these factors [26, 27]. In the study reported here, we focused on immunocytes and their epigenetic regulation.…”

Polymorphisms of the MDR1 and MIF genes in children with nephrotic syndrome

“…These efforts have focused on the analysis of polymorphisms in a number of genes, including those coding for angiotensin-converting enzyme (ACE) [1][2][3][4][5][6], cytokines or growth factors [7][8][9][10][11][12][13][14][15][16][17][18], apolipoprotein E (APOE) [19][20][21], paraoxonase 1 (PON1) [22], multiple drug resistance 1 (MDR1, also known as ABCB1, ATP-binding cassette, sub-family B member 1) [23], and glucocorticoid receptor (NR3C1) [24,25]. However, the results of these studies have not been consistent.…”

Relationship between Angiotensin-Converting Enzyme Insertion/Deletion Gene Polymorphism and Susceptibility of Minimal Change Nephrotic Syndrome: A Meta-Analysis

“…Some investigations suggested that genetic factors might play a key role in the pathomechanism of MCNS [2–5]. The angiotensin-converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism, correlating with circulating and cellular ACE concentration, might take part in the etiology of MCNS and have been investigated in numerous epidemiologic studies at present.…”