R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome

Abstract EN

Background.

The polymorphism R229Q is one of the most commonly reported podocin sequence variations among steroid-resistant nephrotic syndromes (SRNS).

Aim of the Study.

We investigated the frequency and risk of this polymorphism among a group of Iraqi children with SRNS and steroid-sensitive nephrotic syndrome (SSNS).

Patients and Methods.

A prospective case control study which was conducted in Al-Imamein Al-Kadhimein Medical City, spanning the period from the 1st of April 2015 to 30th of November 2015.

Study sample consisted of 54 children having NS, divided into 2 groups: patients group consisted of 27 children with SRNS, and control group involved 27 children with SSNS.

Both were screened by real time polymerase chain reaction for R229Q in exon 5 of NPHS2 gene.

Results.

Molecular study showed R229Q polymorphism in 96.3% of SRNS and 100% of SSNS.

There were no phenotypic or histologic characteristics of patients bearing homozygous R229Q polymorphism and the patients with heterozygous R229Q polymorphism.

Conclusion.

Polymorphism R229Q of NPHS2 gene is prevalent in Iraqi children with SRNS and SSNS.

Further study needs to be done, for other exons and polymorphism of NPHS2 gene in those patients.