自閉症 - オープンアクセス
オープンアクセス

概要

Association with Autism of Two Polymorphisms in Gene Encoding Oxytocin Receptors in Slovakia

Silvia Lakatosova, Lenka Dudova, Anna Pivovarciova, Veronika Husarova, Katarina Babinska, Aneta Kubranska and Daniela Ostatnikova

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.