Polymorphisms of candidate genes in Slovak autistic patients.
Psychiatr Genet
; 20(4): 137-9, 2010 Aug.
Article
en En
| MEDLINE
| ID: mdl-20436377
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Trastorno Autístico
/
Polimorfismo de Nucleótido Simple
Tipo de estudio:
Observational_studies
/
Risk_factors_studies
Límite:
Humans
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Psychiatr Genet
Asunto de la revista:
GENETICA
/
PSIQUIATRIA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Eslovaquia