Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental and neurobehavioral disorder characterized by impaired social communication, repetitive and restricted patterns of behavior, activity, or interest, and altered emotional processing. Reported prevalence is 4 times higher in men and it has increased in recent years. Immunological, environmental, epigenetic, and genetic factors play a role in the pathophysiology of autism. Many neurochemical pathways and neuroanatomical events are effective in determining the disease. It is still unclear how the main symptoms of autism occur because of this complex and heterogeneous situation. In this study, we focused on gamma amino butyric acid (GABA) and serotonin, which are thought to contribute to the etiology of autism; it is aimed to elucidate the mechanism of the disease by investigating variant changes in the GABA receptor subunit genes GABRB3, GABRG3 and the HTR2A gene, which encodes one of the serotonin receptors. 200 patients with ASD between the ages of 3-9 and 100 healthy volunteers were included in the study. Genomic DNA isolation was performed from peripheral blood samples taken from volunteers. Genotyping was performed using the RFLP method with PCR specific for specific variants. Data were analyzed with SPSS v25.0 program. According to the data obtained in our study; In terms of HTR2A (rs6313 T102C) genotypes, the homozygous C genotype carrying frequency in the patient group and the homozygous T genotype carrying frequency…
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Altered function of GABRB2 and GABRB3 receptors disrupts functional integration of pyramidal neuron subtypes in cortical circuits and has been linked to an imbalance between excitation and inhibition in cortical and subcortical circuits, a widely proposed mechanism in ASD pathophysiology.
“Altered function of these receptors disrupts the functional integration of pyramidal neuron subtypes in cortical circuits (Babij et al., 2023) and has been linked to an imbalance between excitation and inhibition in cortical and subcortical circuits, a widely proposed mechanism in ASD pathophysiology (Babij et al., 2023; Coskunpinar et al., 2023).”
From Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder (2026) · cites this paper as Coskunpinar et al., 2023
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Qing, Z., Yin, Z., Chen, B., Rao, Z., Yin, D., Li, D., Lu, Y., Shi, M., Li, S., Xu, Y., et al. (2026) · Frontiers in Neuroscience · doi:10.3389/fnins.2026.1964684
“…integration of pyramidal neuron subtypes in cortical circuits (Babij et al., 2023) and has been linked to an imbalance between excitation and inhibition in cortical and subcortical circuits, a widely proposed mechanism in ASD pathophysiology (Babij et al., 2023; Coskunpinar et al., 2023).”
- Authors
- Coskunpinar, E. M., Tur, S., Cevher Binici, N., & Yazan Songür, C.
- Affiliations
- Sağlık Bilimleri Üniversitesi (TR)
- ORCID
- Tur, Seymanur
- Venue
- Gene
- Publisher
- Elsevier BV
- Published
- 2023-06
- Volume
- 870
- Pages
- 147399
- ISSN
- 0378-1119 (ISSN-L)
- OpenAlex
- W4362584575
- Cited by
- 21
- References
- 5
- Citations by year
- 2026: 9 · 2025: 7 · 2024: 4 · 2023: 1
- FWCI
- 3.15
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- Gene (publishedVersion)
- PubMed (publishedVersion)
- Funders
- University of Health Sciences Lahore (2022/066, 21502867, :453-456)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Keywords
- autism spectrum disorder, GABRG3, GABRB3, HTR2A, genetic variants, GABA receptors, serotonin receptors, genetic susceptibility, genotype frequency, autism etiology
- MeSH terms
- Autism Spectrum Disorder, Autistic Disorder, Gene Frequency, Genotype, Humans, Male, Receptors, GABA-A, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Receptor, Serotonin, 5-HT2A
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