| 1. |
- Johansson, Daniel, et al.
(författare)
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Associations between oxytocin-related genes and autistic-like traits
- 2014
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Ingår i: Social Neuroscience. - Stockholm : Karolinska Institutet, Dept of Medical Epidemiology and Biostatistics. - 1747-0919 .- 1747-0927.
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Tidskriftsartikel (refereegranskat)abstract
- Oxytocin has repeatedly been shown to influence human behavior in social contexts; also, a relationship between oxytocin and the pathophysiology of autism spectrum disorder (ASD) has been suggested. In the present study, we investigated single-nucleotide polymorphisms (SNPs) in the oxytocin gene (OXT) and the genes for single-minded 1 (SIM1), aryl hydrocarbon receptor nuclear translocator 2 (ARNT2) and cluster of differentiation 38 (CD38) in a population of 1771 children from the Child and Adolescent Twin Study in Sweden (CATSS). Statistical analyses were performed to investigate any association between SNPs and autistic-like traits (ALTs), measured through ASD scores in the Autism-Tics, ADHD and other Co-morbidities inventory. Firstly, we found a statistically significant association between the SIM1 SNP rs3734354 (Pro352Thr) and scores for language impairment (p = .0004), but due to low statistical power this should be interpreted cautiously. Furthermore, nominal associations were found between ASD scores and SNPs in OXT, ARNT2 and CD38. In summary, the present study lends support to the hypothesis that oxytocin and oxytocin neuron development may have an influence on the development of ALTs and suggests a new candidate gene in the search for the pathophysiology of ASD.
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| 2. |
- Cortes, Diana S., et al.
(författare)
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Mixed support for a causal link between single dose intranasal oxytocin and spiritual experiences: opposing effects depending on individual proclivities for absorption
- 2018
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Ingår i: Social Cognitive and Affective Neuroscience. - : Oxford University Press (OUP). - 1749-5016 .- 1749-5024. ; 13:9, s. 921-932
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Tidskriftsartikel (refereegranskat)abstract
- Intranasal oxytocin (OT) has previously been found to increase spirituality, an effect moderated by OT-related genotypes. This pre-registered study sought to conceptually replicate and extend those findings. Using a single dose of intranasal OT vs placebo (PL), we investigated experimental treatment effects, and moderation by OT-related genotypes on spirituality, mystical experiences, and the sensed presence of a sentient being. A more exploratory aim was to test for interactions between treatment and the personality disposition absorption on these spirituality-related outcomes. A priming plus sensory deprivation procedure that has facilitated spiritual experiences in previous studies was used. The sample (N = 116) contained both sexes and was drawn from a relatively secular context. Results failed to conceptually replicate both the main effects of treatment and the treatment by genotype interactions on spirituality. Similarly, there were no such effects on mystical experiences or sensed presence. However, the data suggested an interaction between treatment and absorption. Relative to PL, OT seemed to enhance spiritual experiences in participants scoring low in absorption and dampen spirituality in participants scoring high in absorption.
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| 3. |
- Henningsson, Susanne, 1977, et al.
(författare)
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A missense polymorphism in the putative pheromone receptor gene VN1R1 is associated with sociosexual behavior
- 2017
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Ingår i: Translational Psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Pheromones regulate social and reproductive behavior in most mammalian species. These effects are mediated by the vomeronasal and main olfactory systems. Effects of putative pheromones on human neuroendocrine activity, brain activity and attractiveness ratings suggest that humans may communicate via similar chemosignaling. Here we studied two samples of younger and older individuals, respectively, with respect to one nonsynonymous polymorphism in the gene encoding the human vomeronasal type-1 receptor 1, VN1R1, and one nonsynonymous polymorphism in the gene encoding the olfactory receptor OR7D4. Participants in both samples had self-reported their sociosexual behavior using the sociosexual orientation inventory, including questions regarding lifetime number of one-night stands, number of partners last year and expected number of partners the coming 5 years. In women, there was a significant association between the VN1R1 polymorphism and sociosexual behavior in both samples, driven specifically by the question regarding one-night stands. Our results support the hypothesis that human social interaction is modulated by communication via chemosignaling.
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| 4. |
- Henningsson, Susanne, 1977, et al.
(författare)
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Association between polymorphisms in NOS3 and KCNH2 and social memory
- 2015
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Ingår i: Frontiers in Neuroscience. - : Frontiers Media SA. - 1662-4548 .- 1662-453X. ; 9
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Tidskriftsartikel (refereegranskat)abstract
- Social memory, including the ability to recognize faces and voices, is essential for social relationships. It has a large heritable component, but the knowledge about the contributing genes is sparse. The genetic variation underlying inter-individual differences in social memory was investigated in an exploratory sample (n = 55), genotyped with a chip comprising approximately 200,000 single nucleotide polymorphisms (SNPs), and in a validation sample (n = 582), where 30 SNPs were targeted. In the exploratory study face identity recognition was measured. The validation study also measured vocal sound recognition, as well as recognition of faces and vocal sounds combined (multimodal condition). In the exploratory study, the 30 SNPs that were associated with face recognition at puncorrected < 0.001 and located in genes, were chosen for further study. In the validation study two of these SNPs showed significant associations with recognition of faces, vocal sounds, and multimodal stimuli: rs1800779 in the gene encoding nitric oxide synthase 3 (NOS3) and rs3807370 in the gene encoding the voltage-gated channel, subfamily H, member 2 (KCNH2), in strong linkage disequilibrium with each other. The uncommon alleles were associated with superior performance, and the effects were present for men only (p < 0.0002). The exploratory study also showed a weaker but significant association with (non-emotional) word recognition, an effect that was independent of the effect on face recognition. This study demonstrates evidence for an association between NOS3 and KCNH2SNPs and social memory.
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| 5. |
- Hovey, Daniel, et al.
(författare)
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Antisocial behavior and polymorphisms in the oxytocin receptor gene: findings in two independent samples.
- 2016
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Ingår i: Molecular psychiatry. - Stockholm : Springer Science and Business Media LLC. - 1476-5578 .- 1359-4184. ; 16
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Tidskriftsartikel (refereegranskat)abstract
- The quantitative genetic contribution to antisocial behavior is well established, but few, if any, genetic variants are established as risk factors. Emerging evidence suggests that the neuropeptide oxytocin (OXT) may modulate interpersonal aggression. We here investigated whether single-nucleotide polymorphisms (SNPs) in the OXT receptor gene (OXTR) are associated with the expression of antisocial behavior. A discovery sample, including both sexes, was drawn from the Child and Adolescent Twin Study in Sweden (CATSS; n=2372), and a sample from the Twin Study of Child and Adolescent Development (TCHAD; n=1232) was used for replication. Eight SNPs in OXTR, selected on previous associations with social and antisocial behavior, were genotyped in the participants of CATSS. Significant polymorphisms were subsequently genotyped in TCHAD for replication. Participants completed self-assessment questionnaires-Life History of Aggression (LHA; available only in CATSS), and Self-Reported Delinquency (SRD; available in both samples)-designed to capture antisocial behavior as continuous traits. In the discovery sample, the rs7632287 AA genotype was associated with higher frequency of antisocial behavior in boys, and this was then replicated in the second sample. In particular, overt aggression (directly targeting another individual) was strongly associated with this genotype in boys (P=6.2 × 10(-7) in the discovery sample). Meta-analysis of the results for antisocial behavior from both samples yielded P=2.5 × 10(-5). Furthermore, an association between rs4564970 and LHA (P=0.00013) survived correction in the discovery sample, but there was no association with the SRD in the replication sample. We conclude that the rs7632287 and rs4564970 polymorphisms in OXTR may independently influence antisocial behavior in adolescent boys. Further replication of our results will be crucial to understanding how aberrant social behavior arises, and would support the OXT receptor as one potential target in the treatment of aggressive antisocial behavior.Molecular Psychiatry advance online publication, 22 September 2015; doi:10.1038/mp.2015.144.
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| 6. |
- Hovey, Daniel, et al.
(författare)
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Emotion recognition associated with polymorphism in oxytocinergic pathway gene ARNT2
- 2018
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Ingår i: Social Cognitive & Affective Neuroscience. - : Oxford University Press (OUP). - 1749-5024 .- 1749-5016. ; 13:2, s. 173-181
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Tidskriftsartikel (refereegranskat)abstract
- The ability to correctly understand the emotional expression of another person is essential for social relationships and appears to be a partly inherited trait. The neuropeptides oxytocin and vasopressin have been shown to influence this ability as well as face processing in humans. Here, recognition of the emotional content of faces and voices, separately and combined, was investigated in 492 subjects, genotyped for 25 single nucleotide polymorphisms (SNPs) in eight genes encoding proteins important for oxytocin and vasopressin neurotransmission. The SNP rs4778599 in the gene encoding aryl hydrocarbon receptor nuclear translocator 2 (ARNT2), a transcription factor that participates in the development of hypothalamic oxytocin and vasopressin neurons, showed an association that survived correction for multiple testing with emotion recognition of audio-visual stimuli in women (). This study demonstrates evidence for an association that further expands previous findings of oxytocin and vasopressin involvement in emotion recognition.
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| 7. |
- Hovey, Daniel
(författare)
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On oxytocin and social behavior
- 2018
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Complex social cognitive processes underlie social behavior. Oxytocin has long been recognized as crucial in social behavior in animals, but its role in regulating human social cognition and behavior is less clear, particularly with regard to endogenous oxytocin. The aims of this thesis were to investigate (i) how endogenous oxytocin affects face and emotion recognition in humans, (ii) how it may modulate social impairments in autism spectrum disorder and antisocial behavior, (iii) how exogenous (intranasal) oxytocin may influence the salience of human faces, and finally (iv) the role of endogenous oxytocin in zebrafish social behavior. We investigated endogenous oxytocin by studying genetic variation in oxytocin-related genes, and found that oxytocin influences social cognition in humans, specifically via modulation of face recognition (Paper I) and via modulation of emotion recognition in women (Paper II). In addition, we found tentative associations between variation in oxytocin-related genes and autistic-like traits in the general population (Paper III), and showed that variation in the oxytocin receptor gene is associated with antisocial behavior in men (Paper IV). We also showed that exogenous (intranasal) oxytocin acts to increase the salience of human faces (Paper V), a mechanism that may underlie its behavioral effects. Finally, we demonstrated that an oxytocin receptor antagonist decreases social preference in adult and larval zebrafish (Paper VI). In conclusion, this thesis confirms the importance of endogenous oxytocin for social cognition in humans, and demonstrates one mechanism by which exogenous oxytocin may act. Furthermore, we established an animal model for future research on the oxytocin system.
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| 8. |
- Hovey, Daniel, et al.
(författare)
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The effect of intranasal oxytocin on visual processing and salience of human faces
- 2020
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Ingår i: Translational Psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- The mechanisms underlying the role of oxytocin (OT) as a regulator of social behavior in mammals are only partly understood. Recently, it has been proposed that OT increases the salience of social stimuli. We carried out a randomized, double-blind, cross-over study of the effects of OT on binocular rivalry, a visual phenomenon underpinned by the interplay of excitation and inhibition in the cortex. A final sample of 45 participants viewed images of social stimuli (faces with different emotional expressions) and non-social stimuli (houses and Gabor patches). We demonstrate a robust effect that intranasal OT increases the salience of human faces in binocular rivalry, such that dominance durations of faces are longer-this effect is not modulated by the facial expression. We tentatively show that OT treatment increases dominance durations for non-social stimuli. Our results lend support to the social salience hypothesis of OT, and in addition offer provisional support for the role of OT in influencing excitation-inhibition balance in the brain.
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| 9. |
- Jonsson, Lina, 1982, et al.
(författare)
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Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10
- 2014
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Ingår i: Molecular Autism. - Stockholm : Karolinska Institutet, Dept of Medical Epidemiology and Biostatistics. - 2040-2392.
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Tidskriftsartikel (refereegranskat)abstract
- Background: Autistic-like traits (ALTs) are continuously distributed in the general population, with the autism spectrum disorder (ASD) at the upper extreme end. A genetic overlap has been shown between ALTs and ASD, indicating that common variation in ASD candidate genes may also influence ALTs. In our study, we have investigated the SNP rs4307059 that has been associated with both ALTs and ASD. In addition, we genotyped polymorphisms in a selection of genes involved in synaptic functioning, that is, SHANK3, RELN, and CNTNAP2, which repeatedly have been associated with ASD. The possible associations of these polymorphisms with ALTs, as well as genetic factors for neurodevelopmental problems (NDPs), were investigated in a large cohort from the general population: The Child and Adolescent Twin Study in Sweden. For analyses of ALTs and NDPs, 12,319 subjects (including 2,268 monozygotic (MZ) and 3,805 dizygotic (DZ) twin pairs) and 8,671 subjects (including 2,243 MZ and 2,044 DZ twin pairs), respectively, were included in the analyses. Findings: We could not replicate the previous association between rs4307059 and social communication impairment. Moreover, common variations in CNTNAP2 (rs7794745 and rs2710102), RELN (rs362691), and SHANK3 (rs9616915) were not significantly associated with ALTs in our study. Conclusions: Our results do not suggest that the investigated genes, which previously has been found associated with ASD diagnosis, have any major influence on ALTs in children from the general population.
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| 10. |
- Karlsson, Sara, 1980, et al.
(författare)
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Social memory associated with estrogen receptor polymorphisms in women
- 2016
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Ingår i: Social Cognitive & Affective Neuroscience. - : Oxford University Press (OUP). - 1749-5016 .- 1749-5024. ; 11:6, s. 877-883
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Tidskriftsartikel (refereegranskat)abstract
- The ability to recognize the identity of faces and voices is essential for social relationships. Although the heritability of social memory is high, knowledge about the contributing genes is sparse. Since sex differences and rodent studies support an influence of estrogens and androgens on social memory, polymorphisms in the estrogen and androgen receptor genes (ESR1, ESR2, AR) are candidates for this trait. Recognition of faces and vocal sounds, separately and combined, was investigated in 490 subjects, genotyped for 10 single nucleotide polymorphisms (SNPs) in ESR1, four in ESR2 and one in the AR. Four of the associations survived correction for multiple testing: women carrying rare alleles of the three ESR2 SNPs, rs928554, rs1271572 and rs1256030, in linkage disequilibrium with each other, displayed superior face recognition compared with non-carriers. Furthermore, the uncommon genotype of the ESR1 SNP rs2504063 was associated with better recognition of identity through vocal sounds, also specifically in women. This study demonstrates evidence for associations in women between face recognition and variation in ESR2, and recognition of identity through vocal sounds and variation in ESR1. These results suggest that estrogen receptors may regulate social memory function in humans, in line with what has previously been established in mice.
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