Sex-specific mediation effect of the right fusiform face area volume on the association between variants in repeat length ofAVPR1ARS3 and altruistic behavior in healthy adults

Wang, Junping; Qin, Wen; Liu, Feng; Liu, Bing; Zhou, Yuan; Jiang, Tianzi; Yu, Chunshui

doi:10.1002/hbm.23203

Cited by 18 publications

(15 citation statements)

References 48 publications

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“…However, in several studies, cathodal stimulation was associated with a neurobehavioral effect in agreement with an enhanced function of the cerebellar cortex (Galea et al, 2011 ; Ferrucci et al, 2012 ; Pope and Miall, 2012 ; Shah et al, 2013 ; Bersani et al, 2015 ; Bocci et al, 2015 ; Bradnam et al, 2015 ; Minichino et al, 2015 ; Panouillères et al, 2015b ). On the other hand some studies have shown that anodal stimulation may impair cerebellar function (Ferrucci et al, 2008 ; Foerster et al, 2013 ; Dutta et al, 2014 ; Macher et al, 2014 ; Bocci et al, 2015 ; Doeltgen et al, 2015 ; Panouillères et al, 2015b ; Chothia et al, 2016 ). For instance, Panouillères et al ( 2015b ) showed that cathodal cerebellar tDCS facilitates saccadic adaptation, while anodal tDCS disrupted the adaptation.…”

Section: Technical Issuesmentioning

confidence: 99%

“…A sham session usually consists of ramping up the current to the same intensity as used in the active sessions, followed by immediately ramping down the current. In most studies this procedure results in an active stimulation of 30–60 s (Galea et al, 2009 ; Jayaram et al, 2012 ; Block and Celnik, 2013 ; Sadnicka et al, 2013 ; Chen et al, 2014 ; Dutta et al, 2014 ; Hardwick and Celnik, 2014 ; Herzfeld et al, 2014 ; Zuchowski et al, 2014 ; Benussi et al, 2015 ; Doeltgen et al, 2015 ; Martin et al, 2015 ; Panouillères et al, 2015a , b ; Chothia et al, 2016 ; Van Wessel et al, 2016 ; Wessel et al, 2016 ). To effectively blind the subjects for sham or active stimulation, the electrodes remain on the head after ramping down the current to obtain the impression of comparable session lengths.…”

Section: Technical Issuesmentioning

confidence: 99%

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tDCS of the Cerebellum: Where Do We Stand in 2016? Technical Issues and Critical Review of the Literature

Dun

Bodranghien

Mariën

et al. 2016

Front. Hum. Neurosci.

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Transcranial Direct Current Stimulation (tDCS) is an up-and-coming electrical neurostimulation technique increasingly used both in healthy subjects and in selected groups of patients. Due to the high density of neurons in the cerebellum, its peculiar anatomical organization with the cortex lying superficially below the skull and its diffuse connections with motor and associative areas of the cerebrum, the cerebellum is becoming a major target for neuromodulation of the cerebellocerebral networks. We discuss the recent studies based on cerebellar tDCS with a focus on the numerous technical and open issues which remain to be solved. Our current knowledge of the physiological impacts of tDCS on cerebellar circuitry is criticized. We provide a comparison with transcranial Alternating Current Stimulation (tACS), another promising transcranial electrical neurostimulation technique. Although both tDCS and tACS are becoming established techniques to modulate the cerebellocerebral networks, it is surprising that their impacts on cerebellar disorders remains unclear. A major reason is that the literature lacks large trials with a double-blind, sham-controlled, and cross-over experimental design in cerebellar patients.

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Section: Technical Issuesmentioning

confidence: 99%

Section: Technical Issuesmentioning

confidence: 99%

tDCS of the Cerebellum: Where Do We Stand in 2016? Technical Issues and Critical Review of the Literature

Dun

Bodranghien

Mariën

et al. 2016

Front. Hum. Neurosci.

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“…2015 ; Ryk etal. 2014 ), and a series of repeats in the AVPR1A gene’s promoter region, which have been associated with social behavior in voles, mice and humans ( Donaldson and Young 2013 ; Hammock and Young 2005 ; Wang etal. 2016 ; Walum etal.…”

Section: Introductionmentioning

confidence: 99%

Functional Mechanisms of Microsatellite DNA in Eukaryotic Genomes

Bagshaw

2017

Genome Biology and Evolution

104

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Microsatellite repeat DNA is best known for its length mutability, which is implicated in several neurological diseases and cancers, and often exploited as a genetic marker. Less well-known is the body of work exploring the widespread and surprisingly diverse functional roles of microsatellites. Recently, emerging evidence includes the finding that normal microsatellite polymorphism contributes substantially to the heritability of human gene expression on a genome-wide scale, calling attention to the task of elucidating the mechanisms involved. At present, these are underexplored, but several themes have emerged. I review evidence demonstrating roles for microsatellites in modulation of transcription factor binding, spacing between promoter elements, enhancers, cytosine methylation, alternative splicing, mRNA stability, selection of transcription start and termination sites, unusual structural conformations, nucleosome positioning and modification, higher order chromatin structure, noncoding RNA, and meiotic recombination hot spots.

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“…Often researchers have examined three nucleotide repeats: two located in the 5′ promoter region (RS1, RS3) and one in the intron (AVR) of AVPR1A . In both patient and non-patient populations the lengths of these repeats have been shown to modulate social behaviors including altruistic behavior in healthy adults, prepulse inhibition, and the processing of facial expressions (Knafo et al, 2008; Levin et al, 2009; Zink and Meyer-Lindenberg, 2012; Wang et al, 2016). In an ASD sample, evidence of disequilibrium of the AVPR1A microsatellite RS3 was observed in 115 trios (Kim et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin—AVPR1A, AVPR1B, and OXTR

et al. 2016

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Background: There are limited treatments available for autism spectrum disorder (ASD). Studies have reported significant associations between the receptor genes of oxytocin (OT) and vasopressin (AVP) and ASD diagnosis, as well as ASD-related phenotypes. Researchers have also found the manipulation of these systems affects social and repetitive behaviors, core characteristics of ASD. Consequently, research involving the oxytocin/vasopressin pathways as intervention targets has increased. Therefore, further examination into the relationship between these neuropeptides and ASD was undertaken. In this study, we examined associations between variants in the receptor genes of vasopressin (AVPR1A, AVPR1B), oxytocin (OXTR), and ASD diagnosis along with related subphenotypes.Methods: Probands were assessed using Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, and clinical DSM-IV-TR criteria. Single nucleotide polymorphisms (SNPs) in AVPR1B and OXTR, and microsatellites in AVPR1A were genotyped in ~200 families with a proband with ASD. Family-based association testing (FBAT) was utilized to determine associations between variants and ASD. Haplotypes composed of OXTR SNPs (i.e., rs53576-rs2254298-rs2268493) were also analyzed due to previously published associations.Results: Using the additive inheritance model in FBAT we found associations between AVPR1B SNPs (rs28632197, p = 0.005, rs35369693, p = 0.025) and diagnosis. As in other studies, OXTR rs2268493 (p = 0.050) was associated with diagnosis. rs2268493 was also associated with ASD subphenotypes of social withdrawal (p = 0.013) and Insistence on Sameness (p = 0.039). Further analyses demonstrated that the haplotype, rs2254298–rs2268493 was found to be significantly associated with diagnosis (A-T; p = 0.026). FBAT was also used to analyze AVPR1A microsatellites (RS1 and RS3). Both length variants were found to be associated with restrictive, repetitive behaviors, but not overall diagnosis. Correction for multiple comparisons was performed for SNPs tested in each gene region, only AVPR1B SNPs remained significantly associated with ASD diagnosis.Conclusions: Autism is a heterogeneous disorder with many genes and pathways that contribute to its development. SNPs and microsatellites in the receptor genes of OT and AVP are associated with ASD diagnosis and measures of social behavior as well as restricted repetitive behaviors. We reported a novel association with ASD and AVPR1B SNPs. Understanding of genotype-phenotype relationships may be helpful in the development of pharmacological interventions for the OT/AVP system.

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Sex-specific mediation effect of the right fusiform face area volume on the association between variants in repeat length ofAVPR1ARS3 and altruistic behavior in healthy adults

Cited by 18 publications

References 48 publications

tDCS of the Cerebellum: Where Do We Stand in 2016? Technical Issues and Critical Review of the Literature

tDCS of the Cerebellum: Where Do We Stand in 2016? Technical Issues and Critical Review of the Literature

Functional Mechanisms of Microsatellite DNA in Eukaryotic Genomes

ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin—AVPR1A, AVPR1B, and OXTR

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