AVPR1A andOXTR polymorphisms are associated with sexual and reproductive behavioral phenotypes in humans

Prichard, Zoë M.; Mackinnon, Andrew; Jorm, Anthony F.; Easteal, Simon

doi:10.1002/humu.9510

Cited by 64 publications

(52 citation statements)

References 16 publications

(22 reference statements)

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“…Firstly, significant association between OXTR SNPs [21][22][23][24][25][26] and risk for autism has been provisionally shown (but also see [27,28]) and, notably, was mediated by socialization skills in our study [23]. Additionally, SNPs associated with ASD are also associated with amygdala volume [29], depression/anxiety [29], negative emotionality [30], attention deficit [31], adult attachment styles [32,33] (but see [34]), affectivity, emotional loneliness and IQ [35], empathy and stress reactivity [36], observed parenting [37], with sexual phenotypes [38] and in our own studies with prosocial behavior [39]. Interestingly, the AVPR1a receptor of the closely related nonapeptide vasopressin has also been associated with ASD [40][41][42].…”

Section: Oxytocin and Autism Spectrum Disorders (Asd)supporting

confidence: 69%

Are retinoids potential therapeutic agents in disorders of social cognition including autism?

et al. 2011

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Edited by Sergio Papa, Gianfranco Gilardi and Wilhelm JustKeywords: Autism spectrum disorder (ASD) All-trans retinoic acid (ATRA) CD38 Oxytocin Polymorphism a b s t r a c t Increasing evidence suggests that the nonapeptide, oxytocin (OT), helps shape social and affiliative behaviors not only in lower mammals but also in humans. Recently, an essential mediator of brain OT release has been discovered, ADP-ribosyl cyclase and/or CD38. We have subsequently shown that polymorphisms across the CD38 gene are associated with autism spectrum disorders (ASD). Notably, CD38 expression in lymphoblastoid cells (LBC) is reduced in cell lines derived from ASD subjects compared to parental cell lines. Intriguingly, a correlation was observed between CD38 expression and measures of social function in ASD. Finally, we have shown that all-trans retinoic acid (ATRA), a known inducer of CD38 transcription, can rescue low CD38 expressing LBC lines derived from ASD subjects and restore normal levels of transcription of this ectoenzyme providing 'proof of principle' in a peripheral model that retinoids are potential therapeutic agents in ASD. Ó 2011 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved. OxytocinClassically, the nonapeptide oxytocin (OT) has been viewed as a hypothalamic neuropeptide that is released into the general circulation from the neural lobe of the pituitary, inducing uterine contractions during parturition and milk ejection during lactation. OT is derived from a pre-prohormone precursor that is synthesized in the hypothalamus and stored in vesicles at the posterior pituitary for storage and subsequent release into the bloodstream (see [1] for comprehensive review of the oxytocin receptor system). OT and social behaviorBeyond the long-known peripheral effects of OT, a wealth of animal studies have elaborated the role of OT, or their analogues such as isotocin and vasotocin [2], in molding social behavior from fish to mammals [3]. In the past few years the role of OT has also been examined in our own species, and similar to what has been learned from animal studies, it appears that this nonapeptides also influence social behaviors in humans [4,5]. Indeed, OT has been suggested as the 'great facilitator of life' in a recent review [6].In humans, intranasal administration of OT has been shown to increase trust [7], facilitate mind-reading [8], enhance human memory for social identity [9], increase positive communication between couples [10], increase gaze to the eye region [11] and increase generosity [12]. Intriguingly, OT plasma levels have been linked to individual patterns of maternal-fetal attachment [13] and salivary OT levels were associated with bonding to own parents and inversely related to psychological distress, particularly depressive symptoms [14]. Social anxiety symptom severity, adjusted for age and gender in a healthy group of subjects, was associated with higher plasma oxytocin levels [15]. Imaging studies reinforce the role of OT in influencing human social ...

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Section: Oxytocin and Autism Spectrum Disorders (Asd)supporting

confidence: 69%

Are retinoids potential therapeutic agents in disorders of social cognition including autism?

et al. 2011

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“…30 It should also be noted that not all AVPR1A genetic associations are sexually dimorphic, as an effect on sexual behaviour has also been recently observed in men and women. 21 The use of a low-level baseline (that is comparing emotional faces to a condition judging geometrc shapes, as opposed to one in which faces of neutral emotion are viewed) was chosen in this study as it has been shown to be necessary for reliable and reproducible amygdala activation. 51 Future work could now explore differential activation to other socially relevant stimuli, such as neutral or happy faces, to explore effects of neuropeptides and genetic variation in their receptors on social cognition.…”

Section: Discussionmentioning

confidence: 99%

“…19 A further link to social behaviour in general was provided by the same group that found association of RS1-RS3 haplotypes with a personality trait, reward dependence 20 and an impact of long and short alleles of RS3 on altruistic behaviour during an economic game, the dictator game. 19 Finally, Prichard et al 21 found an association of AVPR1A polymorphisms with another phenotype related to social behaviour, age of first intercourse.…”

Section: Introductionmentioning

confidence: 99%

Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans

Kolachana²,

et al. 2008

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In mammals, the neuropeptide vasopressin is a key molecule for complex emotional and social behaviours. Two microsatellite polymorphisms, RS1 and RS3, near the promoter of AVPR1A, encoding the receptor subtype most heavily implicated in behaviour regulation, have been linked to autism and behavioural traits. However, the impact of these variants on human brain function is unknown. Here we show that human amygdala function is strongly associated with genetic variation in AVPR1A. Using an imaging genetics approach in a sample of 121 volunteers studied with an emotional face-matching paradigm, we found that differential activation of amygdala is observed in carriers of risk alleles for RS3 and RS1. Alleles in RS1 previously reported to be significantly over-and undertransmitted to autistic probands showed opposing effects on amygdala activation. Furthermore, we show functional difference in human brain between short and long repeat lengths that mirror findings recently obtained in a corresponding variant in voles. Our results indicate a neural mechanism mediating genetic risk for autism through an impact on amygdala signalling and provide a rationale for exploring therapeutic strategies aimed at abnormal amygdala function in this disorder.

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“…Individual differences in the oxytocin system, including the oxytocin receptor, have been observed (Prichard et al, 2007). However, these have not been clearly linked with sexuality related phenotypic differences.…”

Section: Recent Genetic Genomic and Physiological Datamentioning

confidence: 99%

Evolution and human sexuality

Gray

2013

American J Phys Anthropol

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The aim of this review is to put core features of human sexuality in an evolutionary light. Toward that end, I address five topics concerning the evolution of human sexuality. First, I address theoretical foundations, including recent critiques and developments. While much traces back to Darwin and his view of sexual selection, more recent work helps refine the theoretical bases to sex differences and life history allocations to mating effort. Second, I consider central models attempting to specify the phylogenetic details regarding how hominin sexuality might have changed, with most of those models honing in on transitions from a possible chimpanzee-like ancestor to the slightly polygynous and long-term bonded sociosexual partnerships observed among most recently studied hunter-gatherers. Third, I address recent genetic and physiological data contributing to a refined understanding of human sexuality. As examples, the availability of rapidly increasing genomic information aids comparative approaches to discern signals of selection in sexuality-related phenotypes, and neuroendocrine studies of human responses to sexual stimuli provide insight into homologous and derived mechanisms. Fourth, I consider some of the most recent, large, and rigorous studies of human sexuality. These provide insights into sexual behavior across other national samples and on the Internet. Fifth, I discuss the relevance of a life course perspective to understanding the evolution of human sexuality. Most research on the evolution of human sexuality focuses on young adults. Yet humans are sexual beings from gestation to death, albeit in different ways across the life course, and in ways that can be theoretically couched within life history theory. Am J Phys Anthropol 57:94-118, 2013. V C 2013 Wiley Periodicals, Inc.The aim of this review is to put core features of human sexuality in an integrative, evolutionary light. Given the central importance of sexuality to the evolutionary imperative-reproductive success-there is strong theoretical impetus for understanding how evolution has shaped human sexuality in the past, and for how the influence of past selective forces continue to manifest in the present. For biological anthropologists, interdisciplinary social and biomedical scientists, and even wider audiences, questions about human sexuality can be among the most compelling and meaningful, another reason to try informing answers to fundamental questions of human sexuality with the most scientifically supported and current views. An understanding of human sexuality is central to topics as diverse as predicting the dynamics of a sexually transmitted infection (STI) outbreak to the reasons why people pour so much of their time and resources into mating effort. Human sexuality, as much as any other topical focus within biological anthropology, warrants ongoing evolutionary scrutiny.For several reasons, this is arguably an opportune time for providing a current overview of the evolution of human sexuality. For one, many of the foundati...

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AVPR1A andOXTR polymorphisms are associated with sexual and reproductive behavioral phenotypes in humans

Cited by 64 publications

References 16 publications

Are retinoids potential therapeutic agents in disorders of social cognition including autism?

Are retinoids potential therapeutic agents in disorders of social cognition including autism?

Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans

Evolution and human sexuality

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