1Neuroscience Research Institute, Peking University, Beijing 100191, China
2Department of Neurobiology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing 100191, China
3Key Laboratory for Neuroscience, Ministry of Education/ National Health and Family Planning Commission, Peking University, Beijing 100191, China
4Fujian Provincial Key Laboratory of Neurodegenerative Disease and Aging Research, Institute of Neuroscience, College of Medicine, Xiamen University, Xiamen 361005, China

Abstract 

Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorders characterized by impaired social interactions, communication deficits, and repetitive behavior. Although the mechanisms underlying its etiology and manifestations are poorly understood, several lines of evidence from rodent and human studies suggest involvement of the evolutionarily highly-conserved oxytocin (OXT) and arginine-vasopressin (AVP), as these neuropeptides modulate various aspects of mammalian social behavior. As far as we know, there is no comprehensive review of the roles of the OXT and AVP systems in the development of ASD from the genetic aspect. In this review, we summarize the current knowledge regarding associations between ASD and single-nucleotide variants of the human OXT-AVP pathway genes OXT, AVP, AVP receptor 1a (AVPR1a), OXT receptor (OXTR), the oxytocinase/vasopressinase (LNPEP), and ADP-ribosyl cyclase (CD38).

Keywords

Oxytocin, Arginine-vasopressin, Single-nucleotide polymorphisms, Autism spectrum disorder

[SpringerLink]