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.
aInstitute of Physiology, Faculty of Medicine
bDepartment of Molecular Biology, Faculty of Natural Sciences
cInstitute of Pathophysiology, Faculty of Medicine, Comenius University, Bratislava, Slovakia
Correspondence to Silvia Kelemenova, Institute of Physiology, Faculty of Medicine, Comenius University, Sasinkova 2, Bratislava 81372, Slovakia
Tel: +421 2 59357520; fax: +421 2 59357201;
Received 24 March 2009 Revised 10 November 2009 Accepted 10 November 2009