The association between oxytocin receptor gene (OXTR) polymorphisms and affective temperaments, as measured by TEMPS-A

Kawamura, Yoshiya; Liu, Xiaoxi; Akiyama, Tsuyoshi; Shimada, Takafumi; Otowa, Takeshi; Sakai, Yoshie; Kakiuchi, Chihiro; Umekage, Tadashi; Sasaki, Tsukasa; Akiskal, Hagop S.

doi:10.1016/j.jad.2010.04.014

Cited by 64 publications

(64 citation statements)

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“…The haplotype combination of rs2254298 A allele, rs2228485 C allele, and rs237911 G allele was significantly associated with an increased risk of preterm birth. This seems interesting, as SNPs rs2254298 and rs2228485 have been previously associated with positive and negative affect [13]. Consequently it has been hypothesized that human affect regulation may be mediated by Oxytocin via its effect on the hypothalamicpituitary-adrenal axis.…”

Section: Discussionmentioning

confidence: 98%

“…This may partly be due to the fact that despite the fact that these OXTR gene polymorphisms have been investigated in a variety of diseases, their biological effects and exact influence on the oxytocin mediated pathways have not been clarified [13,19,30]. Thus, individual polymorphisms may not have any effect and influence on labor at all.…”

Section: Discussionmentioning

confidence: 99%

“…It is a nine amino acid neuropeptide, which stimulates uterine contractions and lactation and modulates behavior and cognition [1,8,13,30]. The human oxytocin receptor (OXTR) is a polypeptide with seven transmembrane domains belonging to the class I G protein-coupled receptor family [8].…”

Section: Introductionmentioning

confidence: 99%

“…However, little is known about their influence on human physiology. So far OXTR gene polymorphisms have mainly been investigated in a variety of psychiatric disorders and disease [13,19,30]. Additionally, although oxytocin is known to play a crucial in role parturition, until now, to the best of our knowledge, the association between OXTR gene polymorphisms and the risk of PTB has not been investigated.…”

Section: Introductionmentioning

confidence: 99%

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Common Oxytocin Receptor Gene Polymorphisms and the Risk for Preterm Birth

et al. 2013

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Abstract.Oxytocin is crucially involved in the onset and maintenance of labor. We investigated the association between oxytocin receptor gene polymorphisms and preterm birth. The presence of four common oxytocin receptor gene polymorphisms (rs2254298, rs53576, rs2228485 and rs237911) was evaluated in one hundred women with preterm birth and one hundred healthy women using restriction fragment length polymorphism genotyping. No association was found between the presence of any individual oxytocin receptor gene polymorphism and preterm birth. In haplotype analysis, the haplotype combination of rs2254298 A allele, rs2228485 C allele and rs237911 G allele was found to be significantly associated with an increased risk of preterm birth (OR = 3.2 [CI 1.04-9.8], p = 0.043). In conclusion our findings suggest that a combination of three oxytocin receptor gene polymorphisms is associated with an increased risk for preterm birth. We propose further studies investigating the role of oxytocin receptor gene polymorphisms and preterm birth.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Common Oxytocin Receptor Gene Polymorphisms and the Risk for Preterm Birth

et al. 2013

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“…11 The diagnosis was confirmed according to the Diagnostic and Statistical Manual, 4th edition criteria, 1 using the Mini-International Neuropsychiatric Interview 12 and clinical records. Details of the recruitment of cases 13 and controls [13][14][15][16] are described elsewhere.…”

Section: Sample Recruitmentmentioning

confidence: 99%

A genome-wide CNV association study on panic disorder in a Japanese population

Kawamura¹,

Otowa

Koike

et al. 2011

J Hum Genet

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Family and twin studies have indicated that genetic factors have an important role in panic disorder (PD), whereas its pathogenesis has remained elusive. We conducted a genome-wide copy number variation (CNV) association study to elucidate the involvement of structural variants in the etiology of PD. The participants were 2055 genetically unrelated Japanese people (535 PD cases and 1520 controls). CNVs were detected using Genome-Wide Human SNP array 6.0, determined by Birdsuite and confirmed by PennCNV. They were classified as rare CNVs (found in o1% of the total sample) or common CNVs (found in X5%). PLINK was used to perform global burden analysis for rare CNVs and association analysis for common CNVs. The sample yielded 2039 rare CNVs and 79 common CNVs. Significant increases in the rare CNV burden in PD cases were not found. Common duplications in 16p11.2 showed Bonferroni-corrected P-values o0.05. Individuals with PD did not exhibit an increased genome-wide rare CNV burden. Common duplications were associated with PD and found in the pericentromeric region of 16p11.2, which had been reported to be rich in low copy repeats and to harbor developmental disorders, neuropsychiatric disorders and dysmorphic features. Keywords: 16p11.2; copy number variation; deletion; duplication; genome-wide association study; global burden analysis; Japanese; panic disorder INTRODUCTION Panic disorder (PD) is characterized by recurrent and unexpected panic attacks, subsequent anticipatory anxiety and phobic avoidance, with the frequent development of agoraphobia. 1 The lifetime prevalence of PD is 4.7% with female preponderance. 2 PD frequently takes a chronic course, with many remissions and relapses. 3 Genetic epidemiological researches including family and twin studies have shown that genetic as well as environmental factors have an important role in the pathogenesis of PD. First-degree relatives of proband with PD have a six-fold increased risk of developing the condition. 4 Twin studies show that about 40% of liability toward PD relates to heritable factors. 5 Although several linkage studies and many association studies on more than 350 candidate genes for PD have been concluded, the results were inconsistent, negative or not clearly replicated. 6 Copy number variations (CNVs) are quantitative structural variants; they are deletions and duplications of DNA segments ranging

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Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder

et al. 2023

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Oxytocin (OT), the brain's most abundant neuropeptide, plays an important role in social salience and motivation. Clinical trials of the efficacy of OT in autism spectrum disorder (ASD) have reported mixed results due in part to ASD's complex etiology. We investigated whether genetic and epigenetic variation contribute to variable endogenous OT levels that modulate sensitivity to OT therapy. To carry out this analysis, we integrated genome‐wide profiles of DNA‐methylation, transcriptional activity, and genetic variation with plasma OT levels in 290 participants with ASD enrolled in a randomized controlled trial of OT. Our analysis identified genetic variants with novel association with plasma OT, several of which reside in known ASD risk genes. We also show subtle but statistically significant association of plasma OT levels with peripheral transcriptional activity and DNA‐methylation profiles across several annotated gene sets. These findings broaden our understanding of the effects of the peripheral oxytocin system and provide novel genetic candidates for future studies to decode the complex etiology of ASD and its interaction with OT signaling and OT‐based interventions. Lay Summary Oxytocin (OT) is an abundant chemical produced by neurons that plays an important role in social interaction and motivation. We investigated whether genetic and epigenetic factors contribute to variable OT levels in the blood. To this, we integrated genetic, gene expression, and non‐DNA regulated (epigenetic) signatures with blood OT levels in 290 participants with autism enrolled in an OT clinical trial. We identified genetic association with plasma OT, several of which reside in known autism risk genes. We also show statistically significant association of plasma OT levels with gene expression and epigenetic across several gene pathways. These findings broaden our understanding of the factors that influence OT levels in the blood for future studies to decode the complex presentation of autism and its interaction with OT and OT‐based treatment.

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The association between oxytocin receptor gene (OXTR) polymorphisms and affective temperaments, as measured by TEMPS-A

Cited by 64 publications

References 42 publications

Common Oxytocin Receptor Gene Polymorphisms and the Risk for Preterm Birth

Common Oxytocin Receptor Gene Polymorphisms and the Risk for Preterm Birth

A genome-wide CNV association study on panic disorder in a Japanese population

Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder

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