title: Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children.
abstract: BACKGROUND
  Nephrin and podocin proteins, encoded by NPHS1 and NPHS2 genes, are essential for the integrity of the glomerular filter. The present study was aimed to investigate whether NPHS1 rs437168 and NPHS2 rs61747728 genetic variants are involved in the susceptibility to nephrotic syndrome (NS).
  
  
  METHODS
  This case-control study was performed on 108 children with NS and 97 healthy children. Genomic DNA was extracted from whole blood using the salting-out method. Polymorphism of the NPHS1 rs437168 and NPHS2 rs61747728 were detected by amplification refractory mutation system- and tetra primers amplification refractory mutation system-polymerase chain reaction, respectively.
  
  
  RESULTS
  The results showed that the NPHS1 rs437168 GA as well as GA+AA genotypes increased the risk of NS in comparison with GG genotype (odds ratio, 4.76, 95% confidence interval, 2.31 to 9.80; P < .001 and odds ratio, 4.57; 95% confidence interval, 2.31 to 9.04, ; P < .001, respectively). The A allele was associated with increased risk of NS (odds ratio, 3.53; 95% confidence interval, 1.94 to 6.42, ; P < .001) in comparison to the G allele. No association was observed between NPHS2 rs61747728 polymorphism and NS.
  
  
  CONCLUSIONS
  Our findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Hashemi
authors.affiliation: Research Center for Children and Adolescents Health; Department of Pediatrics, School of Medicine, Zahedan University of Medical sciences, Zahedan, Iran. sisadegh@yahoo.com.
authors.forename: Simin
authors.initials: S
authors.lastname: Sadeghi-Bojd
authors.forename: Khaled
authors.initials: K
authors.lastname: Rahmania
authors.forename: Ebrahim
authors.initials: E
authors.lastname: Eskandari-Nasab
mesh_terms: D000367:Age Factors; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007492:Iran; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009404:Nephrotic Syndrome / Q000175:diagnosis / Q000235:genetics*; D016017:Odds Ratio; D010641:Phenotype; D016133:Polymerase Chain Reaction; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein; C113267:nephrin