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.
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Multiple studies have replicated abnormal reelin expression in autism, including RELN polymorphisms, decreased Reelin mRNA in superior frontal cortex and cerebellum, and reduced Reelin in blood.
“Several studies have demonstrated abnormal reelin expression in autism and replicated these results; notably, polymorphisms of the RELN gene [140, 141], decreased Reelin mRNA in superior frontal cortex and cerebellum [89], and reduced Reelin expression in blood analyses [143].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [140]
Autism is associated with RELN gene variants yielding reduced Reelin expression in vitro and in vivo, and with PON1 gene variants responsible for lower gene expression and reduced detoxification of some OP compounds.
“At the same time, autism is associated with RELN gene variants yielding reduced Reelin gene expression both in vitro and in vivo, and with PON1 gene variants responsible for lower gene expression and reduced detoxification of some OP compounds [140, 239, 240].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [140]
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- Authors
- Kelemenova, S., Schmidtova, E., Ficek, A., Celec, P., Kubranska, A., & Ostatnikova, D.
- Affiliations
- Comenius University Bratislava (SK)
- Venue
- Psychiatric Genetics
- Published
- 2010-08
- Volume
- 20
- Issue
- 4
- Pages
- 137-139
- ISSN
- 0955-8829 (ISSN-L)
- OpenAlex
- W2091476756
- Cited by
- 50
- References
- 25
- Citations by year
- 2024: 1 · 2023: 2 · 2022: 4 · 2020: 3 · 2019: 1 · 2018: 1 · 2017: 2 · 2016: 5 · 2015: 4 · 2014: 4 · 2013: 10 · 2012: 10
- FWCI
- 4.46
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Psychiatric Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Univerzita Komenského v Bratislave
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Social Sciences › Psychology › Social Psychology › Neuroendocrine regulation and behavior
- Keywords
- autism spectrum disorder, candidate genes, genetic polymorphism, oxytocin, oxytocin receptor, reelin, synaptogenesis, neuroendocrine pathways
- MeSH terms
- Reelin Protein, Alleles, Autistic Disorder, Humans, Male, Nerve Tissue Proteins, Serine Endopeptidases, Cell Adhesion Molecules, Neuronal, Case-Control Studies, Extracellular Matrix Proteins, Slovakia, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
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