Oxytocin Receptor Single Nucleotide Polymorphisms Research Articles

The Role of Empathy in Antisocial Symptoms

Antisocial behavior refers to actions that violate social norms. Such a tendency is a result of multifaceted processes. Within an individuals development, genetic factors and environmental factors come into play. While research widely covered empathetic factors, family factors, and genetic factors in inducing antisocial behavior, few studies have reviewed and integrated these factors from a perspective of developmental psychopathology. This study, therefore, aims to explore how empathetic factors, family factors, and genetic factors influence the development of antisocial symptoms. This study argues that (1) sympathetic empathy plays an essential role during antisocial development and could relate to ones mentalizing process; (2) parenting style plays an important role in predicting future antisocial behavior; (3) and different oxytocin receptor single-nucleotide polymorphisms (SNPs) have varying effects on antisocial behavior. This review can contribute to the development of effective intervention programs for at-risk adolescents.

Understanding altruistic behavior: The joint role of prefrontal damage and OXTR genotype

Altruism is a type of prosocial behavior that is carried out in the absence of personal benefit or even at an expense to self. Trait altruism varies greatly across individuals, and the reasons for this variability are still not fully understood. Growing evidence suggests that altruism may be partly determined by the oxytocin receptor (OXTR) gene, which regulates the emotions underlying altruistic attitudes, such as empathy and trust. Neuroimaging and lesion studies have also implied several higher-order brain regions, including the prefrontal cortex, in altruistic behaviors. Yet the existing reports are contradictory and suggest that the top-down control exercised by the prefrontal cortex may promote both altruistic and self-interested behaviors and, thus, could obscure one's natural proclivity towards altruism encoded by OXTR.Here, we hypothesized that extensive prefrontal damage would result in an increased influence of the OXTR genotype on one's altruistic attitudes and actions. To test this hypothesis, we recruited 115 male combat veterans with penetrating traumatic brain injury to the prefrontal cortex and other brain regions, as well as 35 demographically matched control subjects without brain injury. Participants completed a self-report altruism questionnaire and were genotyped for four OXTR single nucleotide polymorphisms implicated in prosocial behavior, including rs53576, rs1042778, rs2254298 and rs7632287.Consistent with the previous studies, we found that individuals homozygotic for the G allele of rs53576 and rs7632287 were significantly more altruistic than carriers of at least one “vulnerable” A allele. Remarkably, in patients with prefrontal cortex damage, greater lesion extent was associated with significantly lower altruism scores in carriers of the A allele of rs7632287, but not in G-homozygotes, suggesting that significant disruption of the prefrontal cortex increased the influence of genetic polymorphisms on prosocial behavior. This study presents the first account of an interaction effect between the OXTR genotype and the location and extent of brain damage.

Oxytocin receptor single nucleotide polymorphism predicts atony-related postpartum hemorrhage

BackgroundPostpartum hemorrhage remains a key contributor to overall maternal morbidity in the United States. Current clinical assessment methods used to predict postpartum hemorrhage are unable to prospectively identify about 40% of hemorrhage cases. Oxytocin is a first-line pharmaceutical for preventing and treating postpartum hemorrhage, which acts through oxytocin receptors on uterine myocytes. Existing research indicates that oxytocin function is subject to variation, influenced in part by differences in the DNA sequence within the oxytocin receptor gene. One variant, rs53576, has been shown to be associated with variable responses to exogenous oxytocin when administered during psychological research studies. How this variant may influence myometrial oxytocin response in the setting of third stage labor has not been studied. We tested for differences in the frequency of the oxytocin receptor genotype at rs53576 in relationship to the severity of blood loss among a sample of individuals who experienced vaginal birth.MethodsA case–control prospective design was used to enroll 119 postpartum participants who underwent vaginal birth who were at least 37 weeks of gestation. Cases were defined by either a 1000 mL or greater blood loss or instances of heavier bleeding where parturients were given additional uterotonic treatment due to uterine atony. Controls were matched to cases on primiparity and labor induction status. Genotype was measured from a maternal blood sample obtained during the 2nd postpartum month from 95 participants. Statistical analysis included bivariate tests and generalized linear and Poisson regression modeling.ResultsThe distribution of the genotype across the sample of 95 participants was 40% GG (n = 38), 50.5% AG (n = 48) and 9.5% AA (n = 9). Blood loss of 1000 mL or greater occurred at a rate of 7.9% for GG, 12.5% for AG and 55.6% for AA participants (p = 0.005). Multivariable models demonstrated A-carriers (versus GG) had 275.2 mL higher blood loss (95% CI 96.9–453.4, p < 0.01) controlling for parity, intrapartum oxytocin, self-reported ancestry, active management of third stage or genital tract lacerations. Furthermore, A-carrier individuals had a 79% higher risk for needing at least one second-line treatment (RR = 1.79, 95% CI = 1.08–2.95) controlling for covariates. Interaction models revealed that A-carriers who required no oxytocin for labor stimulation experienced 371.4 mL greater blood loss (95% CI 196.6–546.2 mL).ConclusionsWe provide evidence of a risk allele in the oxytocin receptor gene that may be involved in the development of postpartum hemorrhage among participants undergoing vaginal birth, particularly among those with fewer risk factors. The findings, if reproducible, could be useful in studying pharmacogenomic strategies for predicting, preventing or treating postpartum hemorrhage.

Gene–environment interaction: Oxytocin receptor (OXTR) polymorphisms and parenting style as potential predictors for depressive symptoms

Depression is a common mental health problem that is thought to develop through a combination of genetic, psychological, and environmental factors, including parental behaviours and parental mental health. The present study investigated the potential interaction between oxytocin receptor (OXTR) single nucleotide polymorphisms (SNPs) (rs53576, rs237880, rs237887, rs237889, rs237898, rs1042778, rs2268490, rs2268491, rs4686302, rs6770632, rs13316193) and parenting style in adolescence in relation to depressive symptoms among young adults. The sample consisted of 1,098 Caucasian participants (63.6% females) and their parents. The present study included data from the Survey of Adolescent Life Cohort study collected in 2012 at wave I (mage 14.4 years; DNA collection), 2015 at wave II (mage 17.36 years; Estimation of parenting style, depressive symptoms, and parental depression) and 2018 at wave III (mage 20.19 years; Depressive symptoms). Evidence for an interaction effect between OXTR SNP rs6770632 and negative parenting style on depressive symptoms among young adults was found with support for the diathesis–stress theory. The rs6770632 was associated with depressive symptoms at higher levels of negative parenting, with A:A allele carriers reporting higher levels of depressive symptoms than C:C and C:A allele carriers. The present study provides preliminary knowledge about the potential moderation effects of perceived negative parenting on the effect of OXTR SNPs on depressive symptoms among young adults, independent of sex, previous reports of depressive symptoms, and parental depression.

The oxytocin receptor gene predicts brain activity during an emotion recognition task in autism

BackgroundAutism is a highly varied and heritable neurodevelopmental condition, and common variants explain approximately 50% of the genetic variance of autism. One of the genes implicated in autism is the oxytocin receptor (OXTR). The current study combined genetic and brain imaging (fMRI) data to examine the moderating effect of genotype on the association between diagnosis and brain activity in response to a test of cognitive empathy.MethodsParticipants were adolescents (mean age = 14.7 ± 1.7) who were genotyped for single nucleotide polymorphisms (SNPs) within the OXTR and underwent functional brain imaging while completing the adolescent version of the ‘Reading the Mind in the Eyes’ Test (Eyes Test).ResultsTwo (rs2254298, rs53576) of the five OXTR SNPs examined were significantly associated with brain activity during the Eyes Test, and three of the SNPs (rs2254298, rs53576, rs2268491) interacted with diagnostic status to predict brain activity. All of the effects localized to the right supramarginal gyrus (rSMG) and an overlap analysis revealed a large overlap of the effects. An exploratory analysis showed that activity within an anatomically defined rSMG and genotype can predict diagnostic status with reasonable accuracy.ConclusionsThis is one of the first studies to investigate OXTR and brain function in autism. The findings suggest a neurogenetic mechanism by which OXTR-dependent activity within the rSMG is related to the aetiology of autism.

Oxytocin Receptor Polymorphism Decreases Midline Neural Activations to Social Stimuli in Anorexia Nervosa.

Oxytocin is a neurotransmitter related to both feeding and social behavior; anorexia nervosa is a psychiatric illness defined by reduced food intake, weight loss, and problems in social perceptions. Oxytocin receptor single nucleotide polymorphisms rs2254298 or rs53576 and neural responses to social stimuli were evaluated in adult women with or recovered from anorexia nervosa using functional magnetic resonance imaging. Carriers of the A allele for OXTR rs2254298 (2 AA and 10 AG) showed significantly reduced activation of portions of the posterior cingulate cortex and medial prefrontal cortex for social stimuli as well as greater negative connectivity between the posterior cingulate and the occipital lobe relative to the GG subjects for rs2254298. Differences in the other OXTR SNP, rs53576, did not result in detectable neural differences in either whole brain or region of interest analyses. Development of a mechanistic, biological model of how social behavior is impacted by mental illness requires linking genes to functional brain activations in disease. This pilot study suggests that in anorexia nervosa, differences related to OXTR SNP rs2254298 may alter neural responses to social stimuli and disrupt the engagement and disengagement of the default mode network.

Variations in the oxytocin receptor gene and prosocial behavior: moderating effects of situational factors.

Humans are the most prosocial primate species and they often exhibit high levels of prosocial behavior toward genetically unrelated individuals. Traditional evolutionary theories are not sufficient to explain the individual differences and mechanisms related to prosociality. In this study, we focused on the gene-situation interaction in prosocial behaviors, and the patterns of genotype variance related to cooperation and comforting in different situations. We explored the interaction between the oxytocin receptor (OXTR) gene and situations, and the genotype variance under low and high prosociality situations between outgroup and ingroup recipients in a sample of 422 Chinese males. Prosociality was tested by measuring the prosocial tendencies, and prosocial behaviors were tested in cooperation and comforting tasks. OXTR single nucleotide polymorphisms (SNPs) were genotyped using polymerase chain reaction-restriction fragment length polymorphism analysis. The results suggested that the relationship between OXTR SNPs (specifically rs13316193, rs1042778 and rs237887) and prosocial behavior varied across different situations, and that the associations were moderated by the recipient's identity and the prosocial cost. Our findings indicate the action of a moderating mechanism between the OXTR gene and prosocial behaviors according to situational factors.

The Influence of Genetic Variation on Social Disposition, Romantic Relationships and Social Networks: a Replication Study

ObjectivesSociality is underpinned by a variety of neurochemicals. We previously showed, in a large healthy Caucasian sample, that genes for different neurochemicals are typically associated with differing social domains (disposition, romantic relationships and networks). Here we seek to confirm the validity of these findings by asking whether they replicate in other population samples.MethodsWe test for associations between the same 24 Single Nucleotide Polymorphisms (SNPs) and measures of sociality as previously, in two smaller independent samples: Caucasian individuals with histories of mental illness (subclinical sample) (N = 140), and non-Caucasian individuals (N = 66). We also combined the relevant SNPs and social measures into 18 distinct neurochemical/social domain categories to examine the distribution of significant associations across these.ResultsIn the subclinical Caucasian sample, we confirm previous associations between (i) specific oxytocin and dopamine receptor gene SNPs and sexual attitudes and behavior, and (ii) two SNPs associated with dopamine receptor 2 and feelings of inclusion in the local community. In the non-Caucasian sample, we replicate the previous association between an oxytocin receptor SNP and anxious attachment. More generally, chi-squared tests indicated that the distribution of significant associations for each neurochemical across the three social domains did not differ significantly between the original sample and either of the new samples, except for oxytocin in the non-Caucasian sample.ConclusionsThese results corroborate both the SNP-specific and broader neurochemical associations with particular facets of sociality in two new populations, thereby confirming the validity of the previous findings.

Oxytocin receptor gene variations and socio-emotional effects of MDMA: A pooled analysis of controlled studies in healthy subjects.

Methylenedioxymethamphetamine (MDMA) increases oxytocin, empathy, and prosociality. Oxytocin plays a critical role in emotion processing and social behavior and has been shown to mediate the prosocial effects of MDMA in animals. Genetic variants, such as single-nucleotide polymorphisms (SNPs), of the oxytocin receptor (OXTR) may influence the emotional and social effects of MDMA in humans. The effects of common genetic variants of the OXTR (rs53576, rs1042778, and rs2254298 SNPs) on the emotional, empathogenic, and prosocial effects of MDMA were characterized in up to 132 healthy subjects in a pooled analysis of eight double-blind, placebo-controlled studies. In a subset of 53 subjects, MDMA produced significantly greater feelings of trust in rs1042778 TT genotypes compared with G allele carriers. The rs53576 and rs225498 SNPs did not moderate the subjective effects of MDMA in up to 132 subjects. None of the SNPs moderated MDMA-induced impairments in negative facial emotion recognition or enhancements in emotional empathy in the Multifaceted Empathy Test in 69 subjects. MDMA significantly increased plasma oxytocin concentrations. MDMA and oxytocin concentrations did not differ between OXTR gene variants. The present results provide preliminary evidence that OXTR gene variations may modulate aspects of the prosocial subjective effects of MDMA in humans. However, interpretation should be cautious due to the small sample size. Additionally, OXTR SNPs did not moderate the subjective overall effect of MDMA (any drug effect) or feelings of “closeness to others”.Trial registration: ClinicalTrials.gov: http://www.clinicaltrials.gov, No: NCT00886886, NCT00990067, NCT01136278, NCT01270672, NCT01386177, NCT01465685, NCT01771874, and NCT01951508.

The association of childhood maltreatment with depression and anxiety is not moderated by the oxytocin receptor gene

BackgroundThe oxytocin receptor (OXTR) gene may be involved in resilience or vulnerability towards stress, and hence in the development of stress-related disorders. There are indications that OXTR single nucleotide polymorphisms (SNPs) interact with early life stressors in predicting levels of depression and anxiety. To replicate and extend these findings, we examined whether three literature-based OXTR SNPs (rs2254298, rs53576, rs2268498) interact with childhood maltreatment in the development of clinically diagnosed depression and anxiety disorders.MethodsWe included 2567 individuals from the Netherlands Study of Depression and Anxiety. This sample consisted of 387 healthy controls, 428 people with a current or past depressive disorder, 243 people with a current or past anxiety disorder, and 1509 people with both lifetime depression and anxiety diagnoses. Childhood maltreatment was measured with both an interview and via self-report. Additional questionnaires measured depression and anxiety sensitivity.ResultsChildhood maltreatment was strongly associated with both lifetime depression and anxiety diagnoses, as well as with depression and anxiety sensitivity. However, the OXTR SNPs did not moderate these associations nor had main effects on outcomes.ConclusionsThe three OXTR gene SNPs did not interact with childhood maltreatment in predicting lifetime depression and anxiety diagnoses or sensitivity. This stresses the importance of replication studies with regard to OXTR gene variants in general populations as well as in clearly established clinical samples.

How Oxytocin Receptor (OXTR) Single Nucleotide Polymorphisms Act on Prosociality: The Mediation Role of Moral Evaluation.

Prosociality is related to numerous positive outcomes, and mechanisms underlying individual differences in prosociality have been widely discussed. Recently, research has found converging evidence on the influence of the oxytocin receptor (OXTR) gene on prosociality. Meanwhile, moral reasoning, a key precursor for social behavior, has also been associated with variability in OXTR gene, thus the relationship between OXTR and prosociality is assumed to be mediated by moral evaluation. The current study examines the relationship in question, and includes gender as a potential moderator. Self-reported prosociality on Prosocial Tendencies Measure and evaluation on the moral acceptability of behaviors in stories from 790 Chinese adolescents (32.4% boys) were analyzed for the influence of their OXTR single nucleotide polymorphisms (SNPs). Results showed that SNP at site rs2254298 was indirectly associated with prosocial behaviors via moral evaluation of behaviors, and this effect was moderated by gender. Our findings suggest an indirect association between genetic variations in OXTR and prosociality through moral evaluation, indicating the potential pathway from genetic variability to prosociality through level of moral development. We also provide some evidence that the role of oxytocin system may to some extent depend on gender. These findings may promote our understanding of the genetic and biological roots of prosociality and morality.

Owner-reported personality assessments are associated with breed groups but not with oxytocin receptor gene polymorphisms in domestic dogs (Canis familiaris)

Variation in the oxytocin receptor (OXTR) gene has been linked to dog social behavior in some studies, whereas others have failed to replicate this relationship (in dogs and other species). Ratings of observed behavior are often used to assess personality; however, owner-based behavior and personality assessments have been shown to be comparably consistent. The relationship between OXTR gene variation and behavior as measured by owner-based personality questionnaires has yet to be explored in dogs. The aims of our present study were 3-fold: (1) to investigate the relationship between 2 OXTR single nucleotide polymorphisms (SNPs) (rs8679684 and 19131AG) and 3 owner-based behavior and personality measures in dogs (the Monash Canine Personality Questionnaire-Revised, a history of aggression questionnaire, and an eagerness to please scale), (2) to explore the relationships of personality assessments and OXTR polymorphisms with genetic breed clusters, purebred versus mixed breed status, and how the dog was acquired (shelter vs. other means), and (3) to examine the relationships among the 3 owner-based assessments. We found no relationship between any of the 3 personality measures and genotype at either SNP. This may be because of the relationships between OXTR gene SNPs and behaviors being breed specific, in which case our genetically varied sample would not detect them. In line with kennel club breed descriptions and prior research, herding breeds scored higher in eagerness to please than scent hound breeds, and scent hounds' training focus scores were lower than those of both herding and working breeds. Purebred and mixed breed dogs did not score differently in any of the 3 personality assessments, and dogs adopted from shelters were rated lower in extraversion and eagerness to please than those acquired by other means, suggesting that early shelter experience may affect adult behavior. Dogs with no history of aggression toward household members, unfamiliar children, unfamiliar men and women, and unfamiliar dogs scored higher in amicability, and eagerness to please scores were positively correlated with training focus and amicability. These personality measures appear to evaluate different facets of the same personality concepts. Future research on OXTR gene variation in dogs should be mindful of the possibly limited implications of behavioral assessments that are context specific.

Oxytocin receptor gene variations predict neural and behavioral response to oxytocin in autism.

Oxytocin appears beneficial for autism spectrum disorder (ASD), and more than 20 single-nucleotide polymorphisms (SNPs) in oxytocin receptor (OXTR) are relevant to ASD. However, neither biological functions of OXTR SNPs in ASD nor critical OXTR SNPs that determine oxytocin’s effects on ASD remains known. Here, using a machine-learning algorithm that was designed to evaluate collective effects of multiple SNPs and automatically identify most informative SNPs, we examined relationships between 27 representative OXTR SNPs and six types of behavioral/neural response to oxytocin in ASD individuals. The oxytocin effects were extracted from our previous placebo-controlled within-participant clinical trial administering single-dose intranasal oxytocin to 38 high-functioning adult Japanese ASD males. Consequently, we identified six different SNP sets that could accurately predict the six different oxytocin efficacies, and confirmed the robustness of these SNP selections against variations of the datasets and analysis parameters. Moreover, major alleles of several prominent OXTR SNPs—including rs53576 and rs2254298—were found to have dissociable effects on the oxytocin efficacies. These findings suggest biological functions of the OXTR SNP variants on autistic oxytocin responses, and implied that clinical oxytocin efficacy may be genetically predicted before its actual administration, which would contribute to establishment of future precision medicines for ASD.

Congenital prosopagnosia is associated with a genetic variation in the oxytocin receptor (OXTR) gene: An exploratory study

Face-recognition deficits, referred to with the term prosopagnosia (i.e., face blindness), may manifest during development in the absence of any brain injury (from here the term congenital prosopagnosia, CP). It has been estimated that approximately 2.5% of the population is affected by face-processing deficits not depending on brain lesions, and varying a lot in severity. The genetic bases of this disorder are not known. In this study we tested for genetic association between single-nucleotide polymorphisms (SNPs) in the oxytocin receptor gene (OXTR) and CP in a restricted cohort of Italian participants. We found evidence of an association between the common genetic variants rs53576 and rs2254298 OXTR SNPs and prosopagnosia. This association was also found when including an additional group of German individuals classified as prosopagnosic in the analysis. Our preliminary data provide initial support for the involvement of genetic variants of OXTR in a relevant cognitive impairment, whose genetic bases are still largely unexplored.

How to clone a SNP? Oxytocin receptor single nucleotide polymorphism rs2268498: From association towards functionality

How to clone a SNP? Oxytocin receptor single nucleotide polymorphism rs2268498: From association towards functionality

Neural responses to maternal praise and criticism: Relationship to depression and anxiety symptoms in high-risk adolescent girls.

BackgroundThe parent-child relationship may be an important factor in the development of adolescent depressive and anxious symptoms. In adults, depressive symptoms relate to increased amygdala and attenuated prefrontal activation to maternal criticism. The current pilot study examined how depressive and anxiety symptoms in a high-risk adolescent population relate to neural responses to maternal feedback. Given previous research relating oxytocin to maternal behavior, we conducted exploratory analyses using oxytocin receptor (OXTR) genotype.MethodsEighteen females (ages 12–16) listened to maternal praise, neutral, and critical statements during functional magnetic resonance imaging. Participants completed the Mood and Feelings Questionnaire and the Screen for Child Anxiety Related Emotional Disorders. The OXTR single nucleotide polymorphism, rs53576, was genotyped. Linear mixed models were used to identify symptom or allele (GG, AA/AG) by condition (critical, neutral, praise) interaction effects on brain activation.ResultsGreater symptoms related to greater right amygdala activation for criticism and reduced activation to praise. For left amygdala, greater symptoms related to reduced activation to both conditions. Anxiety symptoms related to differences in superior medial PFC activation patterns. Parental OXTR AA/AG allele related to reduced activation to criticism and greater activation to praise within the right amygdala.ConclusionsResults support a relationship between anxiety and depressive symptoms and prefrontal-amygdala responses to maternal feedback. The lateralization of amygdala findings suggests separate neural targets for interventions reducing reactivity to negative feedback or increasing salience of positive feedback. Exploratory analyses suggest that parents' OXTR genetic profile influences parent-child interactions and related adolescent brain responses.

Oxytocin system social function impacts in children with attention-deficit/hyperactivity disorder.

To investigate relationships between the polymorphisms and social functioning of children with Attention Deficit/Hyperactivity Disorder (ADHD), according to the polymorphism of three oxytocin receptor (OXTR) genes (rs53576, rs13316193, and and rs2268493). A total of 198 children-studying in the same primary and secondary school and matched in terms of age and gender (99 ADHD, 99 control)-were included in this study. The Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version was administered to establish the clinical diagnosis. The Social Reciprocity Scale (SRS) was applied to evaluate social functioning. The total genomic DNA was isolated from buccal mucosa samples. No significant differences were determined between the ADHD and control groups in terms of rs2268493, rs13316193, and rs53576 genotype distribution (P = 0.078, P = 0.330, and P = 0.149, respectively). However, the control group T allele frequency in the OXTR Single Nucleotide Polymorphism (SNP) rs2268493 was significantly higher than the ADHD group (P = 0.024). Compared to the control group, the ADHD group had a higher score on the SRS scale (SRS total; Z = -21,135, P < 0.001). No significant difference existed in the SRS scale scores between the children with the T/T genotype and the C allele in the ADHD group (SRS total; Z = -0.543, P = 0.587). The allele distribution of the OXTR gene SNP rs2268493 was significantly different in the ADHD group, compared to the control group. This observation is important in understanding the underlying biological infrastructure in ADHD and developing treatment modalities.

Oxytocin Receptor Gene Polymorphisms in Patients With Diabetes

Background: Type 2 Diabetes (T2D) is a chronic metabolic disease associated with increased mortality and morbidity. High levels of glucose can damage organs, such as the kidneys, eyes and nerves. Oxytocin (OXT) can regulate feeding behavior, energy balance, insulin sensitivity and insulin secretion. The OXT Receptor (OXTR) mediates the action of OXT on cells. The role of OXTR polymorphism in carbohydrate metabolism disorders, especially in T2D, is not clear. Objectives: The current study aimed to investigate the possible associations between OXTR polymorphism and the risk of developing T2D. Patients and Methods: To study genetic polymorphisms, 120 patients with T2D and 120 controls were selected. Genotyping of the OXTR rs53576 and rs2254298 variants was performed using allele-specific Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) PCR, respectively. Data were analyzed using Chi-square analysis and logistic regression. Results: The logistic regression analysis suggested no significant associations of OXTR Single Nucleotide Polymorphism (SNP) rs22542987 in genotypes (OR = 1.054, 95% CI: 0.557 - 1.995, P = 0.871) and alleles of patients with T2D in the study population (OR = 1.004, 95% CI: 0.547 1.845, P = 1). The rs53576 polymorphism showed the TT genotype (OR = 0.466, %95CI: 0.22 - 0.94, P = 0.035), as well as T allele (OR = 0.66, %95 CI: (0.46 - 0.95), P = 0.03) in the patients and control group with a significant difference suggesting the protective role this polymorphism plays in T2D. Conclusions: Our findings showed that the genotype TT rs53576 OXTR, as well as T allele had significant differences in our population and play a protective role. Therefore, it is suggested to place more interest on these OXTR in large populations and different ethnic groups.

Social cognition, face processing, and oxytocin receptor single nucleotide polymorphisms in typically developing children

Recent research has provided evidence of a link between behavioral measures of social cognition (SC) and neural and genetic correlates. Differences in face processing and variations in the oxytocin receptor (OXTR) gene have been associated with SC deficits and autism spectrum disorder (ASD) traits. Much work has examined the qualitative differences between those with ASD and typically developing (TD) individuals, but very little has been done to quantify the natural variation in ASD-like traits in the typical population. The present study examines this variation in TD children using a multidimensional perspective involving behavior assessment, neural electroencephalogram (EEG) testing, and OXTR genotyping. Children completed a series of neurocognitive assessments, provided saliva samples for sequencing, and completed a face processing task while connected to an EEG. No clear pattern emerged for EEG covariates or genotypes for individual OXTR single nucleotide polymorphisms (SNPs). However, SNPs rs2254298 and rs53576 consistently interacted such that the AG/GG allele combination of these SNPs was associated with poorer performance on neurocognitive measures. These results suggest that neither SNP in isolation is risk-conferring, but rather that the combination of rs2254298(A/G) and rs53576(G/G) confers a deleterious effect on SC across several neurocognitive measures.

A sociability gene? Meta-analysis of oxytocin receptor genotype effects in humans

Variation in the oxytocin receptor (OXTR) gene may partly explain individual differences in oxytocin-related social behavior. Two single nucleotide polymorphisms (SNPs) have been suggested as promising candidates: rs53576 and rs2254298, although the results of studies were not consistent. We carried out meta-analyses for these two SNPs, covering five domains of outcomes: (a) biology, (b) personality, (c) social behavior, (d) psychopathology, and (e) autism, on the basis of 82 pertinent effect sizes, 48 for OXTR rs53576 (N=17 559) and 34 for OXTR rs2254298 (N=13 547). Combined effect sizes did not differ from zero in any of the domains, nor for all domains combined. Clinical status, age, and sex did not moderate the effect sizes. Minor allele frequency was related to ethnicity, with significantly lower minor allele frequencies in samples with predominantly Caucasian participants. The domain of biological functioning seemed most promising, but comprised few studies. We conclude that so far two of the most intensively studied OXTR SNPs (rs53576 and rs2254298) failed to explain a significant part of human social behavior.