title: Association of ACE and MDR1 Gene Polymorphisms with Steroid Resistance in Children with Idiopathic Nephrotic Syndrome.
abstract: OBJECTIVE
  The purpose of the study was to investigate the distribution of insertion/deletion (I/D) polymorphisms of the angiotensin-converting enzyme (ACE) gene and three exonic polymorphisms of the multidrug resistance 1 (MDR1) gene (C3435T, C1236T, and G2677T) in children diagnosed with idiopathic nephrotic syndrome (INS).
  
  
  METHODS
  The study group consisted of 100 healthy controls and 150 INS patients, of which 50 were steroid resistant. Genomic DNA from blood samples was isolated from both of these groups and genotyping of the ACE and MDR1 genes was performed by polymerase chain reaction (PCR) using specific primers.
  
  
  RESULTS
  There was no significant difference observed in the genotypic distribution and D allele frequency of the ACE gene. The two single-nucleotide polymorphisms (SNPs), C1236T and C3435T, of the MDR1 gene showed no significance, whereas the SNP G2677T/A was significantly associated with the genotypes GT and GA of the MDR1 gene, indicating it may be a potential marker to detect drug resistance.
  
  
  CONCLUSIONS
  Screening these polymorphisms will pave the way to better understand the molecular mechanisms of the disease, which may be useful in developing targeted therapies for INS patients.
authors.affiliation: 1 V ClinBio Labs, Central Research Facility, Sri Ramachandra University , Chennai, India .
authors.forename: Mohanapriya Chinambedu
authors.initials: MC
authors.lastname: Dhandapani
authors.affiliation: 2 Department of Human Genetics, Sri Ramachandra University , Chennai, India .
authors.forename: Vettriselvi
authors.initials: V
authors.lastname: Venkatesan
authors.affiliation: 3 Department of Pediatric Nephrology, Mehta Children's Hospital , Chennai, India .
authors.forename: Nammalwar Bollam
authors.initials: NB
authors.lastname: Rengaswamy
authors.affiliation: 4 Department of Medical Genetics, Kanchi Kamakoti CHILDS Trust Hospital , Chennai, India .
authors.forename: Kalpana
authors.initials: K
authors.lastname: Gowrishankar
authors.affiliation: 3 Department of Pediatric Nephrology, Mehta Children's Hospital , Chennai, India .
authors.forename: Prahlad
authors.initials: P
authors.lastname: Nageswaran
authors.affiliation: 2 Department of Human Genetics, Sri Ramachandra University , Chennai, India .
authors.forename: Venkatachalam
authors.initials: V
authors.lastname: Perumal
mesh_terms: D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000097:blood / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D004351:Drug Resistance; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D054643:INDEL Mutation; D007223:Infant; D008297:Male; D009404:Nephrotic Syndrome / Q000097:blood / Q000235:genetics*; D007703:Peptidyl-Dipeptidase A / Q000097:blood / Q000235:genetics*; D011110:Polymorphism, Genetic; D013256:Steroids
chemical_list: D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; D013256:Steroids; D004247:DNA; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A