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Autism Research
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Autism Research
Article . 2014
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Evidence for Interaction Between Markers in GABA(A) Receptor Subunit Genes in an Argentinean Autism Spectrum Disorder Population

Authors: Sesarini, Carla Vanina; Costa, Lucas; Naymark, Muriel; Grañana, Nora Estela; Cajal, Andrea; García Coto, Miguel; Pallia, Roberto C.; +1 Authors

Evidence for Interaction Between Markers in GABA(A) Receptor Subunit Genes in an Argentinean Autism Spectrum Disorder Population

Abstract

Autism spectrum disorders (ASD) can be conceptualized as a genetic dysfunction that disrupts development and function of brain circuits mediating social cognition and language. At least some forms of ASD may be associated with high level of excitation in neural circuits, and gamma‐aminobutyric acid (GABA) has been implicated in its etiology.Single‐nucleotide polymorphisms (SNP) located within the GABA receptor (GABAR) subunit genes GABRA1, GABRG2, GABRB3, and GABRD were screened. A hundred and thirty‐six Argentinean ASD patients and 150 controls were studied, and the contribution of the SNPs in the etiology of ASD was evaluated independently and/or through gene–gene interaction using multifactor dimensionality reduction (MDR) method.From the 18 SNP studied, 11 were not present in our Argentinean population (patients and controls) and 1 SNP had minor allele frequency < 0.1%. For the remaining six SNPs, none provided statistical significant association with ASD when considering allelic or genotypic frequencies. Non‐significant association with ASD was found for the haplotype analysis. MDR identified evidence for synergy between markers in GABRB3 (chromosome 15) and GABRD (chromosome 1), suggesting potential gene–gene interaction across chromosomes associated with increased risk for autism (testing balanced accuracy: 0.6081 and cross‐validation consistency: 10/10, P < 0.001).Considering our Argentinean ASD sample, it can be inferred that GABRB3 would be involved in the etiology of autism through interaction with GABRD. These results support the hypothesis that GABAR subunit genes are involved in autism, most likely via complex gene–gene interactions. Autism Res 2014, 7: 162–166. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.

Country
Argentina
Keywords

Genetic Markers, Multifactor Dimensionality Reduction, Genotype, Autism Spectrum Disorder, Epistasis, Genetic, Gaba(A) Receptor Subunits Polymorphisms, Receptors, GABA-A, Polymorphism, Single Nucleotide, Protein Subunits, Genetics, Population, Gene Frequency, Haplotypes, Child Development Disorders, Pervasive, Reference Values, https://purl.org/becyt/ford/3.1, Humans, Argentinean Population, Genetic Predisposition to Disease, https://purl.org/becyt/ford/3, Child

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
14
Average
Average
Average
Green