Abstract
BackgroundAutism Spectrum Conditions (ASC) are a group of neurodevelopmental conditions characterized by impairments in communication and social interaction, alongside unusually repetitive behaviors and narrow interests. ASC are highly heritable and have complex patterns of inheritance where multiple genes are involved, alongside environmental and epigenetic factors. Asperger Syndrome (AS) is a subgroup of these conditions, where there is no history of language or cognitive delay. Animal models suggest a role for oxytocin (OXT) and oxytocin receptor (OXTR) genes in social-emotional behaviors, and several studies indicate that the oxytocin/oxytocin receptor system is altered in individuals with ASC. Previous studies have reported associations between genetic variations in the OXTR gene and ASC.MethodsThe present study tested for an association between nine single nucleotide polymorphisms (SNPs) in the OXTR gene and AS in 530 individuals of Caucasian origin, using SNP association test and haplotype analysis.ResultsThere was a significant association between rs2268493 in OXTR and AS. Multiple haplotypes that include this SNP (rs2268493-rs2254298, rs2268490-rs2268493-rs2254298, rs2268493-rs2254298-rs53576, rs237885-rs2268490-rs2268493-rs2254298, rs2268490-rs2268493-rs2254298-rs53576) were also associated with AS. rs2268493 has been previously associated with ASC and putatively alters several transcription factor-binding sites and regulates chromatin states, either directly or through other variants in linkage disequilibrium (LD).ConclusionsThis study reports a significant association of the sequence variant rs2268493 in the OXTR gene and associated haplotypes with AS.
Highlights
Autism Spectrum Conditions (ASC) are a group of neurodevelopmental conditions characterized by impairments in communication and social interaction, alongside unusually repetitive behaviors and narrow interests
Single nucleotide polymorphism association single nucleotide polymorphism (SNP) rs2268493 was associated with Asperger Syndrome (AS) (Table 2)
This genetic variation localizes in intron 3 of oxytocin receptor (OXTR) and showed a statistically significant association after Bonferroni correction for effective total number of SNPs (Table 2)
Summary
Autism Spectrum Conditions (ASC) are a group of neurodevelopmental conditions characterized by impairments in communication and social interaction, alongside unusually repetitive behaviors and narrow interests. Autism Spectrum Conditions (ASC) are a group of neurodevelopmental conditions characterized by difficulties in social interaction and communication, alongside unusually repetitive behaviors and narrow interests. The oxytocin receptor (OXTR) gene encodes a member of the class I family of G protein-coupled receptors, which contains seven transmembrane domains It occupies 17 Kb on chromosome 3p25 and includes four exons and three introns. The OXT and OXTR genes are good candidate genes for studying the genetic basis of ASC, because of their role in social-emotional behaviors [16,17,18,19]. Intranasal inhalation of OXT represents a potential treatment of ASC, improving social interaction [20] and emotion recognition [21]
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