Abstract
Study background: Autism is a complex neurodevelopmental disorder involving genetic components in its etiology. Oxytocin is a neuropeptide affecting social behavior acting in the CNS via binding its only type of receptor (OXTR). A number of studies have shown an association of polymorphisms in the OXTR gene and the diagnosis of autism in different ethnic populations. The aim of this study is to find an association of polymorphisms in the OXTR gene and the diagnosis of autism in Slovakia. Methods: After acquiring informed consent, 108 autism patients were recruited into the study (83 males, 25 females), in addition to 131 healthy children as a control group (106 males, 25 females). DNA was extracted from whole blood and four single nucleotide polymorphisms (rs223785, rs2270465, rs2268498, rs53576) were assessed using the PCR-RFLP method. Results: We found two positive associations of polymorphisms in OXTR with autism in boys, namely markers rs2270465 and rs237851 (p<0.0001 and p=0.0016). Both markers survived multiple comparison testing (p<0.0005, p<0.001, respectively). There were no significant differences in the genotype and allelic distribution among groups in girls. Conclusion: Polymorphisms in oxytocin receptor are associated with autism. The addition of psychological profiling may reveal possible correlations of gentoypes/alleles within OXTR with symptom severities.
Highlights
Autism is a neurodevelopmental disorder characterized by social deficits, impaired language, communication and repetitive behaviors
Polymorphisms in oxytocin receptor are associated with autism
We have previously investigated rs2228485 lying in oxytocin receptor (OXTR) gene in Slovak autism population, we have not found positive association with the diagnosis [30]
Summary
Autism is a neurodevelopmental disorder characterized by social deficits, impaired language, communication and repetitive behaviors. It has a wide clinical heterogeneity, the term autism spectrum disorders (ASD) is used. It is a complex disease, involving both genetic and environmental factors. High heritability suggests that genes play a major role in autism etiology [1]. The oxytocin system seems to play a specific role in autism pathogenesis, since deficits in oxytocin plasma levels have been identified in autism patients [3,4,5,6]. Animal studies show that oxytocin plays a role in social interactions, attachment, pair bonding, sexual behavior and social memory [7]. Oxytocin increases trust among humans, improves eye contact and empathy and other aspects of human social behavior [8,9,10]
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
