ADENINE-TO-CYTOSINE 637 SINGLE NUCLEOTIDE POLYMORPHISM OF NPHS2 EXON 8 IN NEPHROTIC SYNDROME

Introduction: The aim of this study was to determine the frequency of the A>C polymorphism at site 637 of exon 8 of NPHS2 and to assess the association of this SNP with demographic, clinical and laboratory data. Patients and methods: This cross-sectional study was conducted in Al-Imamein Al-Kadhimein Medical City and Al-Nahrain College of Medicine from the 1st of August, 2016, to the 30th of November, 2016. Demographic data were collected from each patient, and some laboratory results were recorded. From each patient, 3 ml of venous blood was collected for molecular analysis. Results: A total of 50 children with NS were divided into 24 patients with SSNS and 26 patients with SRNS. Genetic analysis detected the mutated allele in 50 (100%) of the cases. The wild-type allele was detected in 3 (6%) cases: 2 (8.3%) cases of SSNS and 1 (3.8%) case of SRNS. The homozygous mutated genotype was observed in 47 cases, distributed into 22 (91.7%) SSNS and 25 (96.2%) SRNS cases. The heterozygous mutated genotype was observed in 3 cases, distributed into 2 (8.3%) SSNS cases and 1 (3.8%) SRNS case. Our results showed no association of this polymorphism with any of the demographic, clinical or laboratory data for either the homozygous or heterozygous patients. Conclusion: SNP 637 A>C in NPHS2 exon 8 was present in all cases and both groups.