Polymorphic Variants in Oxytocin and Arginine Vasopressin Receptors in a Pediatric Population with Autism Spectrum Disorder Diagnosis in Mexico

Abstract

Background:

Although several approaches have identified individual genes that contribute to autism spectrum disorder (ASD), more research is needed to establish whether these single nucleotide polymorphisms are associated with a lower risk. Studies have found that the oxytocin receptor (OXTR) and arginine-vasopressin receptors (AVPR) genes have an essential role as neuromodulators or neurotransmitters in ASD. Most of these studies have been primarily carried out in the United States, Western Europe, and Australasia, and there is divergence in the conclusions.

Objective:

To date, there are no existing studies in Mexico on the possible usefulness of these genes as biomarkers; hence, this study analyzes the association of the rs2254298 in the OXTR1, rs7294536 in the AVPR1a, and rs28632197 in the AVPR1b with ASD.

Methods:

Seventy-five samples of children with ASD and 71 samples corresponding to children with neurotypical development were analyzed.

Results:

The study found a robust protective association for A allele of the rs28632197 in the AVPR1b, while no effect was found for the rs2254298 and rs7294536.

Conclusion:

The importance of these findings is that the protective association can prevent the disorder from occurring or prevent a more severe manifestation. These findings open new avenues for research in the role played by gene–environment interaction in different geographical and ethnic populations.