Table 1.
OXTR and AVPR polymorphisms associated with social and pathological behaviors.
| Trait | Gene | Polymorphism studied | Species/Ethnicity | Associated Genotype or Haplotype | Behavioral phenotype | Brain/Biological phenotype | Interactions with other gene or variable | References |
|---|---|---|---|---|---|---|---|---|
| Aggression | AVPR1b | rs35369693 | 147 Europeans, 10 African Canadians, 2 East Asians, and 18 of mixed ethnicity | C allele | Increased aggression | – | Haplotypes with rs28676508 | Zai et al., 2012; Luppino et al., 2014 |
| Autism | AVPR1a | RS1 | Irish | Short allele | Autism | Increased activity in the left amygdala in a non-clinical sample | Possibly reduced transcription of AVPR1A | Tansey et al., 2011 |
| Autism | AVPR1a | RS1; RS3 | 94 Caucasian, 7 African-American, 8 Asian-American and 6 Hispanic (17 females) | RS3 | In linkage disequilibrium in autism (not significant after bonferroni correction) | – | – | Kim et al., 2002 |
| Autism | AVPR1a | RS1; RS3 and AVR | Not specified (n = 128 probands, 3 females) | AVR | Transmission desequilibrium in autism; Moderate linkage desequilibirum and association with some scores related to autism | – | Haplotypes involving alleles of the three polymorphisms | Yirmiya et al., 2006 |
| Autism | OXTR | rs2254298 and rs53576 | 57 Caucasian trios | rs2254298 G | Overtransmited in autism | Phenotypic heterogeneity | Haplotypes with an as yet unidentified susceptibility variant | Jacob et al., 2007 |
| Autism | OXTR | rs2254298, rs53576, rs237893, rs237894, rs237911, rs237901, rs810568, rs2228485 | 195 Chinese Han family trios (21 females) | rs2254298 A and rs53576 A; haplotypes involving rs53576 | Displayed a preferential transmission in Autism | – | – | Wu et al., 2005 |
| Autism | AVPR1b | rs2254298, rs53576, rs237893, rs237894, rs237911, rs237901, rs810568, rs2228486 | 89 Swedish, 89 Belgians in the patients sample (122 females); 88 Swedish and 89 Belgiansin the control sample (117 females) | G allele for s3 in Swedish sample; G allele for s5 in the Belgian sample; A-T-C-A-G Haplotype in both samples | Recurrent major depression; Overrepresented in controls; Overrepresented in controls | – | Ethnicity | Van West et al., 2004 |
| Depression | OXTR | rs2254298 | 92 Caucasian adolescent girls | Heterozygous | Highest levels of symptoms of depression, physical and social anxiety, if they presented history of maternal depression | – | Maternal history of recurrent major depressive disorder | Thompson et al., 2011 |
| Depression | OXTR | rs2254298 | Not specified (first cohort composed of 1983 pregnant females) | G Homozygous | Overrepresented in depressed mothers and families (including fathers) | Lower salivary OXT | – | Apter-Levy et al., 2013 |
| Depression | OXTR | rs53576 (G/A) | 413 Caucasian, 18 Asian, 5 Maori/Pacific Islander, 2 Aboriginal and 1 other (261 females) | A Carriers | Higher depressive symptoms if mother has been depressed | – | Association between maternal depression in early childhood and youth depressive symptoms in adolescence | Thompson et al., 2014 |
| Depression | OXTR | rs53576 (G/A) | 167 White, 34 Black, 23 Asian, 17 Arab, 16 South Asian, 6 South East Asian, 4 Latin American, 17 other (213 females) | G Carriers | Increased depressive symptomatology if suffered childhood maltreatment | – | Childhood maltreatment | McQuaid et al., 2013 |
| Depression | OXTR | rs53576 (G/A) | 128 White female | G Carriers | More emotionally sensitive (lower self-esteem) in response to social ostracism | Altered blood pressure and cortisol levels following rejection for G homozygous | – | McQuaid et al., 2015 |
| Depression | OXTR | rs53576; rs2254298 | 99% Caucasians (71% females; n = 268) | No association found | Antidepressant treatment resistance, response or remission | – | Cyclooxygenase-2 (COX-2), was associated with antidepressant treatment resistance | Mendlewicz et al., 2012 |
| Depression | OXTR | rs53576 | 43 clinically depressed and 42 healthy female subjects | Exon 1 and 2 methylation patterns | Decreased methylation state were associated with depression | Regulate DNA methylation throughout the whole genome, depending on early environment | Specific genotypes can regulate DNA methylation | Chen et al., 2015 |
| Empathy | OXTR | rs2268491; rs2254298 | Non-clinical Chinese subjects (46 males, 55 females) | CT higher than CC; CT higher than TT | Cognitive empathy | – | Gender- dependent | Wu et al., 2012 |
| Empathy | OXTR | rs237887; rs4686302 | Non-clinical Chinese subjects (46 males and 55 females). | A Carriers; T carriers | Higher Emotional empathy | – | Gender-dependent | Wu et al., 2012 |
| Empathy | OXTR | rs53576 (G/A) | 35% Caucasian, 41% Asian, and 24% others. (n =192) | G Homozygous | Lower levels of dispositional stress reactivity, exhibit greater empathy | Lower heart rate reactivity to a startle anticipation task | – | Rodrigues et al., 2009 |
| Empathy | OXTR | rs53576 (G/A) | No specified (n = 1532) | G Homozygous; A Homozygous | Greater in-group bias in implicit attitudes; Less motivation to reduce out-group member pain | Higher ACC and SMA activity; Higher NAc activity | – | Luo et al., 2015a |
| Empathy | OXTR | rs53576 (G/A) | Chinese students (n = 1536, 710 females) | G Homozygous | Showed a stronger association between empathy and interdependence | Insula, amygdala and superior temporal gyrus | Associated with racial in-group | Luo et al., 2015b |
| Harm avoidance | OXTR | rs53576 (G/A) | Chinese Han (n = 290, 154 females) | A Homozygous | Increased harm avoidance | Smaller amygdala volumes bilaterally Reduced resting-state functional coupling between the prefrontal cortex and amygdala bilaterally in females | Gender- dependent | Wang et al., 2014 |
| Neuroticism | OXTR | rs53576 (G/A) | Chinese Han (n = 82, 45 females) | G Carriers; AA | MPI neuroticism scores correlated with DAT and OXT interaction (AA) | Lower striatal DAT availability; Negative correlation between DAT availability and OXT levels in G carriers | – | Chang et al., 2014 |
| Prosocial Behavior | AVPR1a | RS1 and RS3 | Non specified (n = 203, 101 females) (n = 15 for post mortem studies) | Long (327–343 bp) alleles | Larger allocations in a dictator game and higher scores in self-reported altruism scales | Increased mRNA hippocampal levels | – | Knafo et al., 2008 |
| Prosocial Behavior | OXTR | rs53576 (G/A) | 108 European - Americans males | G Homozygous | Higher trust behavior | – | – | Krueger et al., 2012 |
| Schizophrenia | AVPR1a | RS3 | Russians (291 patients, 49% females; 302 control group, 59% females) | 327 bp allele | Schizophrenia's negative symptoms; facial affect recognition | – | – | Golimbet et al., 2015 |
| Schizophrenia (Attention) | AVPR1a | RS1; RS3 | Non specified (n = 113, 75 female) | Long alleles (>325 bp) | Promoter repeat region in partially molding social behavior in both animals and humans | Greater levels of prepulse inhibition | Gender (stronger association in male) | Levin et al., 2015 |
| Stress | OXTR | rs53576 (G/A) | White (74.9%), Black (8.92%), Hispanic (8.92%), and other (52.3% female) | A carriers; G Homozygous | Increased Post traumatic symptoms in negative social environment, independently of economic stress; Elevated post traumatic symptoms in negative social environment if economic stress exists | – | Economic stress | Thompson et al., 2011 |
| Stress | OXTR | rs53576 (G/A) | 173 European participants, 15 mixed, and 6 “other.” All males | G carriers | Attenuated anticipatory stress response if they received social support | Lower cortisol responses under stress after social support | Social support | Chen et al., 2011 |
| Stress | OXTR; AVPR1a | rs53576; RS1 | 37% Asian-American, 2% African-American, 23% European-American, 16% Latin American, 7% mixed ethnicity and 15% other. (n = 172, 60% females) | G Homozygous; 320 bp | Women with higher poststressor OXT levels reported more positive affect feelings; Men with high levels of poststressor AVP reported more anger and hostility feelings | – | Gender and poststressor levels of OXT and AVP | Moons et al., 2014 |