Publication details

Vztah polymorfizmů genu pro SNAP-25 ke schizofrenii v české populaci

Title in English The association of SNAP-25 gene polymorphisms with schizophrenia in the Czech population
Authors

LOCHMAN Jan DVOŘÁKOVÁ Dagmar BONCZEK Ondřej KLEMPOVÁ Jitka PLESNÍK Jiří ŠERÝ Omar

Year of publication 2013
Type Conference abstract
MU Faculty or unit

Faculty of Science

Citation
Description Schizophrenia is currently described as a number of diseases with related symptoms. Findings from case-control studies have led us to several hypothesises of schizophrenia development. In our study we have focused on polymorphisms within SNAP-25 (synaptosomal-associated protein 25) candidate gene which is believed to play a role in the neurodevelopment hypothesis of schizophrenia. SNAP-25 is a member of SNARE complex necessary for exocytosis of synaptic vesicle and that way for neurotransmitters release. Recent study found an association of rs3746544 and rs1051312 polymorphisms in 3UTR region of SNAP-25 gene with a risk of developing schizophrenia. We have analyzed 14 single nucleotid polymorphisms (SNPs) lying within SNAP-25 regulatory regions (5UTR, 3UTR, promoter). Their frequency in European population is lower than 10%. Based on the knowledge of gender influencing apparently both prognosis and symptoms but also the development of schizophrenia itself, we have performed genotyping of men patients with schizophrenia (n=192) and healthy controls (n=213). SNPs were genotyped using GoldenGate method on BeadExpress system from Illumina and by using SNaPShot method. Statistically significant associations (p < 0.05) with a risk of schizophrenia have been found in three SNPs (rs77692880, rs6104567 and rs1503112) within regulatory region of SNAP-25 gene. Observed associated polymorphisms further support previous results suggesting the role of SNAP-25 gene in pathogenesis of schizophrenia.
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