Investigation of the association between ROCK2 (Rho-kinaz) gene polymorphism and isolated atrial septal defects in children

Apertures at atrial septum except foramen ovale are named as atrial septal defect(ASD). The ethiopatogenesis of ASD?s can not be clearly illuminated. Has been shown that Rho-kinaz signal pathway plays a role at some critical cellular functions like cell differantiation, proliferation , division and death. One of the theories about ASD formation is abnormalities in gene expression and differantiation caused by mutation at transcription factors. The aim of this study was to investigate the relationship between ROCK-2 gene polymorphizm and isolated ASD.The patients who admitted to Pediatric Cardiology department outpatient clinic of University of Gaziantep Medicine Faculty Hospital and have been diagnosed as isolated ASD (n=150) and healty volunteers who has no cardiac disease (n=150)was taken into this study. DNA isolation were made from blood samples of the patients and control group. SNP (single nucleotide polymorphism) detection was made for exon 16 and 26 by PCR method and for Exon 10 by Real Time PCR method. 22 persons in control group and 27 patients in ASD group were excluded from the study because of unsuccesful DNA isolation.For Thr431Asn polymorphism on Exon 10 region ROCK2 Gene Thr-Thr, Thr-Asn, Asn-Asn genotype frequencies and Thr ?Asn allele frequencies; for Asp601Val polymorphism on Exon 16 region Asp-Asp, Asp-Val, Val-Val genotype frequencies and Asp-Val allele frequencies; for Lys1083Met polymorphism on Exon 26 region Lys-Lys, Lys-Met, Met-Met genotype frequencies and Met-Lys allele frequencies were studied. There were no statistically significant difference between controls and patients in genotype frequencies and allele frequencies (p>0.05).Finally no statistically significant relation between isolated ASD and Thr431Asn polymorphism on ROCK2 gene has been found (p>0.05).