Skip Navigation LinksHome > August 2010 - Volume 20 - Issue 4 > Polymorphisms of candidate genes in Slovak autistic patients
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Psychiatric Genetics:
doi: 10.1097/YPG.0b013e32833a1eb3
Original Articles

Polymorphisms of candidate genes in Slovak autistic patients

Kelemenova, Silviaa; Schmidtova, Evaa; Ficek, Andrejb; Celec, Peterb c; Kubranska, Anetaa; Ostatnikova, Danielaa

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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.

© 2010 Lippincott Williams & Wilkins, Inc.

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