Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: Genetic and molecular studies

Human social behavior develops under the influence of genetic, environmental, and cultural factors. Social cognition comprises our ability to understand and respond appropriately to other people's social approaches or responses. The concept embraces self-knowledge and theory of mind, or the ability to think about emotions and behavior from the perspective of another person. The neuropeptides oxytocin (OT) and vasopressin (AVP) are now known to play an important role, affecting individual differences in parenting behavior, social recognition, and affiliative behaviors. The processes of social cognition are also supported by reward circuitry, underpinned by the dopaminergic neurotransmitter system. Reward processes build social relationships, in parenting and pair-bonding, and influence social interactions that require trust, or display altruism. The impact of emotional regulation upon social behavior, including mood and anxiety, is also mediated through the serotonergic system. Variation in activity of serotonergic networks in the brain influences emotional responsivity, including subjective feelings, physiological responses, emotional expressions, and the tendency to become engaged in action as a consequence of a feeling state. Genetic variation in the receptors associated with OT, AVP, dopamine, and serotonin has been intensively studied in humans and animal models. Recent findings are building an increasingly coherent picture of regulatory mechanisms. (Pediatr Res 69: 85R-91R, 2011) W e, as humans, usually possess the ability to rapidly process social information about the thoughts and actions of other people and to interact in complex ways with them. Social cognition comprises a set of skills that enable us to understand thoughts and intentions that may differ from our own experiences or predispositions. As we develop through early childhood, we are increasingly capable of taking another person's perspective, and we develop self-knowledge. We can accurately predict how another person might behave in the future, from our social perceptions and experiences. We become capable of learning what motivates other people in their social interactions, even if these do not directly involve us. All these skills map onto schemas that are encoded in an associative network in memory and is orchestrated to ensure normal, skilled social adaptation (1).The process by which we acquire social cognitive competence evolves with development and is modified in response to the environment. To begin with, infants cannot easily differentiate between themselves and other people, but they rapidly become aware that their actions have an impact on the physical and social world around them. In due course, they develop social understanding, language, and imitation. Eventually, most of us acquire the ability to "read the mind" of others. By this, we mean that it becomes possible for us to understand why other people behave the way they do and to respond appropriately to them in social situations. If we have not acquired this ability...

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“…Although the association that Wu et al (38) reported was replicated (39), no such association with this allele has been found by others (40,41).…”

Section: Ot and Genetic Influences On Regulationmentioning

confidence: 80%

Genetic Influences on Social Cognition

Skuse

Gallagher

2011

Pediatric Research

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“…In combination with an enriched social-sensory developmental environment, this enhanced developmental expression of neocortical OXTR should lead to enhanced social expertise in adulthood because of more facile neural computation of sensory input as adults (Figure 4). Atypical neocortical multisensory processing is a proposed etiological factor in autism, indicating that this mechanism may help explain some of the gene association studies implicating OXTR in autism (Wu et al, 2005;Jacob et al, 2007;Israel et al, 2008;Lerer et al, 2008;Liu et al, 2010;Campbell et al, 2011), and also that it may be difficult to detect the effect of OXTR alleles on autism risk (Tansey et al, 2010) without controlling for social and sensory environment in early life. As sensory systems are exceptionally tractable experimental targets in human neuroscience research, exploring the interaction between oxytocin and neocortical function should be a highly informative research area in the near term.…”

Section: Future Research Directionsmentioning

confidence: 99%

Developmental Perspectives on Oxytocin and Vasopressin

Hammock

2014

Neuropsychopharmacol

164

146

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The related neuropeptides oxytocin and vasopressin are involved in species-typical behavior, including social recognition behavior, maternal behavior, social bonding, communication, and aggression. A wealth of evidence from animal models demonstrates significant modulation of adult social behavior by both of these neuropeptides and their receptors. Over the last decade, there has been a flood of studies in humans also implicating a role for these neuropeptides in human social behavior. Despite popular assumptions that oxytocin is a molecule of social bonding in the infant brain, less mechanistic research emphasis has been placed on the potential role of these neuropeptides in the developmental emergence of the neural substrates of behavior. This review summarizes what is known and assumed about the developmental influence of these neuropeptides and outlines the important unanswered questions and testable hypotheses. There is tremendous translational need to understand the functions of these neuropeptides in mammalian experience-dependent development of the social brain. The activity of oxytocin and vasopressin during development should inform our understanding of individual, sex, and species differences in social behavior later in life.

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“…Independent studies have reported evidence that variation in OXTR increases susceptibility for ASC [36][37][38][39][40][41], although there has been some heterogeneity in these findings [42]. Persons diagnosed with ASC often exhibit gross impairments in social functioning [43].…”

Section: Introductionmentioning

confidence: 99%

“…Persons diagnosed with ASC often exhibit gross impairments in social functioning [43]. Furthermore, OXTR risk variants for ASC have been associated with individual differences in healthy populations in social behaviours of trust [42] and empathy [44,45]. Evidence therefore demonstrates the social importance of genetic variation in OXTR.…”

Section: Introductionmentioning

confidence: 99%

Association of Genetic Variation in the Promoter Region of OXTR with Differences in Social Affective Neural Processing

O’Connell¹,

Whalley²,

Mukherjee³

et al. 2012

JBBS

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Evidence supports the involvement of oxytocin in social behavior. The oxytocin receptor gene (OXTR) has been associated with differences in social brain function and risk for autism. Motivated by recent work, we investigated the effect of variation in the common functional rs2268498 T/C polymorphism in the promoter region of OXTR on neural responses to fear expressions. 46 healthy subjects were divided into genotype groups of C carriers (n = 32) and TT homozygous (n = 14) and neural activity was measured during the recognition of fear and neutral expressions. Results showed that during the recognition of fear expressions, the TT genotype group exhibited increased responding in the inferior occipital gyrus, considered important for face processing, compared to carriers of the C allele (P < 0.005; cluster corrected for whole brain), an effect not found for neutral faces. These results indicate the impact of this OXTR genetic variant on individual differences in social affective neural processing.

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Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: Genetic and molecular studies

Cited by 94 publications

References 36 publications

Genetic Influences on Social Cognition

Genetic Influences on Social Cognition

Developmental Perspectives on Oxytocin and Vasopressin

Association of Genetic Variation in the Promoter Region of OXTR with Differences in Social Affective Neural Processing

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