Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism

Jacob, Suma; Brune, Camille W.; Carter, C. S.; Leventhal, Bennett L.; Lord, Catherine; Cook, Edwin H.

doi:10.1016/j.neulet.2007.02.001

Cited by 391 publications

(320 citation statements)

References 29 publications

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“…These results may suggest the potential role of OXTR in ASD, as implicated in the previous studies. [20][21][22] In contrast to the case-control analysis, we did not obtain a support for the association in the family-based analysis. This could be due to the insufficient power with limited numbers of informative families.…”

Section: Discussioncontrasting

confidence: 99%

“…Regarding the association of the intron 3 region of OXTR, previous studies observed controversial results. [20][21][22] In a Chinese study, the 'A' allele of rs2254298 was risk for ASD, 20 whereas the 'A' allele was protective for ASD in the Caucasians. 21 In addition, a Jewish study 22 found a haplotype, which contained rs2254298 with the 'A' allele, as protective.…”

Section: Discussionmentioning

confidence: 98%

“…They investigated four SNPs in Han-Chinese ASD trios and found that 'A' alleles of rs53576 and rs2254298 were significantly overtransmitted. Two Caucasian studies 21,22 also found the association between OXTR and ASD, but the detail of the results was inconsistent compared with the Chinese result. Jacob et al 21 investigated the two SNPs (rs53576 and rs2254298), which were suggested in the Chinese study, and found that the 'A' allele of rs2254298 was undertransmitted, not overtransmitted.…”

Section: Introductionmentioning

confidence: 94%

“…These were reported to be associated with ASD in the previous studies. [20][21][22][23] Thus, a total of 12 SNPs were selected. All SNPs were genotyped by using TaqMan genotyping platform.…”

Section: Genotyping and Selection Of The Snpsmentioning

confidence: 99%

“…To date, Chinese and Caucasian studies observed significant genetic associations between OXTR and ASD. [20][21][22] Among them, Wu et al 20 were the first to study the genetic association of single-nucleotide polymorphisms (SNPs) of OXTR in autism. They investigated four SNPs in Han-Chinese ASD trios and found that 'A' alleles of rs53576 and rs2254298 were significantly overtransmitted.…”

Section: Introductionmentioning

confidence: 99%

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Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population

et al. 2010

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The oxytocin receptor (OXTR) gene, which is located on chromosome 3p25.3, has been implicated as a candidate gene for susceptibility of autism spectrum disorder (ASD). Positive associations between OXTR and ASD have been reported in earlier studies. However, the results were inconsistent and demand further studies. In this study, we investigated the associations between OXTR and ASD in a Japanese population by analyzing 11 single-nucleotide polymorphisms (SNPs) using both familybased association test (FBAT) and population-based case-control test. No significant signal was detected in the FBAT test. However, significant differences were observed in allelic frequencies of four SNPs, including rs2254298 between patients and controls. The risk allele of rs2254298 was 'A', which was consistent with the previous study in Chinese, and not with the observations in Caucasian. The difference in the risk allele of this SNP in previous studies might be attributable to an ethnic difference in the linkage disequilibrium structure between the Asians and Caucasians. In addition, haplotype analysis exhibits a significant association between a five-SNP haplotype and ASD, including rs22542898. In conclusion, our study might support that OXTR has a significant role in conferring the risk of ASD in the Japanese population.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 94%

Section: Genotyping and Selection Of The Snpsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population

et al. 2010

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Neurobiology of Wisdom

Meeks

Jeste²

2009

Arch Gen Psychiatry

197

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Context Wisdom is a unique psychological trait noted since antiquity, long discussed in humanities disciplines, recently operationalized by psychology and sociology researchers, but largely unexamined in psychiatry or biology. Objective We discuss recent neurobiological studies related to subcomponents of wisdom identified from several published definitions/descriptions of wisdom by clinical investigators in the field – i.e., prosocial attitudes/behaviors, social decision-making/pragmatic knowledge of life, emotional homeostasis, reflection/self-understanding, value relativism/tolerance, and acknowledgement of and dealing effectively with uncertainty. Design Literature overview focusing primarily on neuroimaging/brain localization and secondarily on neurotransmitters, including their genetic determinants. Results Functional neuroimaging permits exploration of neural correlates of complex psychological attributes such as those proposed to comprise wisdom. The prefrontal cortex figures prominently in several wisdom subcomponents (e.g., emotional regulation, decision-making, value relativism), primarily via top-down regulation of limbic and striatal regions. The lateral prefrontal cortex facilitates calculated, reason-based decision-making, whereas the medial prefrontal cortex is implicated in emotional valence and prosocial attitudes/behaviors. Reward neurocircuitry (ventral striatum, nucleus accumbens) also appears important for promoting prosocial attitudes/behaviors. Monoaminergic activity (especially dopaminergic and serotonergic), influenced by several genetic polymorphisms, is critical to certain subcomponents of wisdom such as emotional regulation (including impulse control), decision-making, and prosocial behaviors. Conclusions We have proposed a speculative model of the neurobiology of wisdom involving fronto-striatal and fronto-limbic circuits and monoaminergic pathways. Wisdom may involve optimal balance between functions of phylogenetically more primitive brain regions (limbic system) and newer ones (prefrontal cortex). Limitations of the putative model are stressed. It is hoped that this review will stimulate further research in characterization, assessment, neurobiology, and interventions related to wisdom.

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Cerebral Palsy, Autism Spectrum Disorders, and Developmental Delay in Children Born After Assisted Conception

Hvidtjørn¹,

Schieve²,

Schendel³

et al. 2009

Arch Pediatr Adolesc Med

139

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To assess the existing evidence of associations between assisted conception and cerebral palsy (CP), autism spectrum disorders (ASD), and developmental delay. Data Sources: Forty-one studies identified in a systematical PubMed and Excerpta Medica Database (EMBASE) search for articles published from January 1, 1996, to April 1, 2008. Study Selection: Studies written in English comparing children born after assisted conception with children born after natural conception assessing CP, ASD, and developmental delay, based on original data with a follow-up of 1 year or more. Main Exposures: In vitro fertilization (IVF) with or without intracytoplasmic sperm injection or ovulation induction with or without subsequent intrauterine insemination. Main Outcome Measures: Cerebral palsy, ASD, and developmental delay. Results: Nine CP studies showed that children born after IVF had an increased risk of CP associated with preterm delivery. In our meta-analysis including 19 462 children exposed to IVF, we estimated a crude odds ratio of 2.18 (95% confidence interval, 1.71-2.77). Eight ASD studies and 30 studies on developmental delay showed inconsistent results. No studies assessed the risk of CP, ASD, or developmental delay in children born after ovulation induction exclusively.

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Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism

Cited by 391 publications

References 29 publications

Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population

Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population

Neurobiology of Wisdom

Cerebral Palsy, Autism Spectrum Disorders, and Developmental Delay in Children Born After Assisted Conception

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