title: Is there any association between childhood cardiac septal defects and ROCK2 gene polymorphism?
abstract: Rho/Rho-kinase pathway plays a critical role in the regulation of cellular functions such as proliferation and migration. One of the possible theories of the development of ventricular septal defects is cell migration disorder. The aim of this study was to analyze the genotype distributions and allele frequencies for the ROCK2 gene Thr431Asn polymorphisms in the development of cardiac septal defects in a Turkish population. In this case-control study, 300 patients with cardiac defects (150 patients with ventricular and 150 patients with atrial septal defects) and control group (150 healthy control subjects) were investigated. A single-nucleotide polymorphism in ROCK2 gene Thr431Asn was analyzed by real-time PCR using a Light-Cycler. Neither genotype distributions nor the allele frequencies for the Thr431Asn polymorphism showed a significant difference between the groups. These results suggest that there is no association of the ROCK2 gene Thr431Asn polymorphism with the development of cardiac septal defects in pediatric patients.
authors.affiliation: Department of Pediatrics, Medical Faculty, Gaziantep University, Gaziantep, Turquia.
authors.forename: M
authors.initials: M
authors.lastname: Aksoy
authors.affiliation: Department of Pediatrics, Medical Faculty, Gaziantep University, Gaziantep, Turquia.
authors.forename: H
authors.initials: H
authors.lastname: Uygun
authors.affiliation: Department of Pediatric Cardiology, Medical Faculty, Gaziantep University, Gaziantep, Turquia osmanbaspinar@hotmail.com.
authors.forename: O
authors.initials: O
authors.lastname: Baspinar
authors.affiliation: Department of Physiology, Medical Faculty, Gaziantep University, Gaziantep, Turquia.
authors.forename: S
authors.initials: S
authors.lastname: Demiryurek
authors.affiliation: Department of Medical Biology and Genetics Medical Faculty, Gaziantep University, Gaziantep, Turquia.
authors.forename: S
authors.initials: S
authors.lastname: Oztuzcu
authors.affiliation: Department of Physiology, Medical Faculty, Gaziantep University, Gaziantep, Turquia.
authors.forename: B
authors.initials: B
authors.lastname: Cengiz
authors.affiliation: Department of Pediatric Cardiology, Medical Faculty, Gaziantep University, Gaziantep, Turquia.
authors.forename: A
authors.initials: A
authors.lastname: Irdem
authors.affiliation: Department of Pediatrics, Medical Faculty, Gaziantep University, Gaziantep, Turquia.
authors.forename: N C
authors.initials: NC
authors.lastname: Araz
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006343:Heart Septal Defects / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D020641:Polymorphism, Single Nucleotide; D014421:Turkey; D054460:rho-Associated Kinases / Q000235:genetics*
chemical_list: C515852:ROCK2 protein, human; D054460:rho-Associated Kinases