title: Polymorphisms of candidate genes in Slovak autistic patients.
abstract: Autism is one of the most genetically influenced neuropsychiatric disorders. However, its detailed genetic basis is far from being clear. Genome-wide association studies have revealed a number of candidate genes, mostly related to synaptogenesis and various neuroendocrine pathways. In our study we have focused on oxytocin (OT), oxytocin receptor (OXTR), GABA receptor gamma 3 (GABRG3), neuroligin (NLGN4X), and reelin (RELN). After signed consent, 90 autistic boys and 85 healthy controls were enrolled in the study. Polymorphisms of OT (rs2740204), OXTR (rs2228485), GABRG3 (rs28431127), and NLGN4X (rs5916338) were analyzed using restriction fragment length polymorphism. (GGC)n STR polymorphism in the 5' UTR of the RELN gene was genotyped using fragment analysis. The only significant association in autistic boys in Slovakia was found with higher number of GGC repeats in the RELN gene (P=0.001) potentially explaining lower RELN levels in blood and brain of autistic patients.
authors.affiliation: Institute of Physiology, Faculty of Medicine, Comenius University, Bratislava, Slovakia. skelemenova@gmail.com
authors.forename: Silvia
authors.initials: S
authors.lastname: Kelemenova
authors.forename: Eva
authors.initials: E
authors.lastname: Schmidtova
authors.forename: Andrej
authors.initials: A
authors.lastname: Ficek
authors.forename: Peter
authors.initials: P
authors.lastname: Celec
authors.forename: Aneta
authors.initials: A
authors.lastname: Kubranska
authors.forename: Daniela
authors.initials: D
authors.lastname: Ostatnikova
mesh_terms: D000483:Alleles; D001321:Autistic Disorder / Q000235:genetics*; D016022:Case-Control Studies; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D000091042:Reelin Protein; D012697:Serine Endopeptidases / Q000235:genetics; D018154:Slovakia
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins; D000091042:Reelin Protein; C000717127:RELN protein, human; D012697:Serine Endopeptidases