HTR1B and HTR2C in autism spectrum disorders in Brazilian families

Orabona, Guilherme Müller; Griesi-Oliveira, Karina; Vadász, E; Bulcão, V.L.S.; Takahashi, V.N.V.O.; Moreira, Eloísa S.; Furia-Silva, M.; Ros-Melo, A.M.S.; Dourado, F.; Matioli, Sérgio Russo; Otto, P. A.; Passos‐Bueno, Maria Rita

doi:10.1016/j.brainres.2008.11.007

Cited by 30 publications

(22 citation statements)

References 36 publications

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“…The control group was provided by the Biobank of our institute, and consisted of 401 individuals (336 individuals ascertained in São Paulo and 65 from Fortaleza-CE, as detailed in Errera et al [2006] and Orabona et al [2009], respectively). Ethical issues prevented the collection of control samples in other locations.…”

Section: Materials and Methods Patients And Controlsmentioning

confidence: 99%

IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population

Brito

Bassi

Masotti

et al. 2012

American J of Med Genetics Pt A

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Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a complex disorder with a worldwide incidence estimated at 1:700. Among the putative susceptibility loci, the IRF6 gene and a region at 8q24.21 have been corroborated in different populations. To test the role of IRF6 in NSCL/P predisposition in the Brazilian population, we conducted a structured association study with the SNPs rs642961 and rs590223, respectively, located at 5' and 3' of the IRF6 gene and not in strong linkage disequilibrium (LD), in patients from five different Brazilian locations. We also evaluated the effect of these SNPs in IRF6 expression in mesenchymal stem cells (MSC). We observed association between rs642961 and cleft lip only (CLO) (P=0.009; odds ratio (OR) for AA genotype=1.83 [95% Confidence interval (CI), 0.64-5.31]; OR for AG genotype=1.72 [95% CI, 1.03-2.84]). This association seems to be driven by the affected patients from Barbalha, a location which presents the highest heritability estimate (H2=0.85), and the A allele at rs642961 is acting through a dominant model. No association was detected for the SNP rs590223. We did not find any correlation between expression levels and genotypes of the two loci, and it is possible that these SNPs have a functional role in some specific period of embryogenesis.

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Section: Materials and Methods Patients And Controlsmentioning

confidence: 99%

IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population

Brito

Bassi

Masotti

et al. 2012

American J of Med Genetics Pt A

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“…Because 5HT1b receptors have been implicated in social behaviors 25,26 and autism 27 and their activation elicits a presynaptic LTD in the striatum 28 , we hypothesized that OT may induce LTD in the NAc via activation of 5HT1b receptors. Consistent with previous results 28 , application of the 5HT1b selective agonist CP-93129 induced robust LTD in NAc MSNs (Fig.…”

Section: Scpp and Ltd Require Drph Inputs And 5ht1b Receptorsmentioning

confidence: 99%

Social reward requires coordinated activity of nucleus accumbens oxytocin and serotonin

Dölen

Darvishzadeh

Huang

et al. 2013

Nature

997

860

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Social behaviors in species as diverse as honey bees and humans promote group survival but often come at some cost to the individual. Although reinforcement of adaptive social interactions is ostensibly required for the evolutionary persistence of these behaviors, the neural mechanisms by which social reward is encoded by the brain are largely unknown. Here we demonstrate that in mice oxytocin (OT) acts as a social reinforcement signal within the nucleus accumbens (NAc) core, where it elicits a presynaptically expressed long-term depression of excitatory synaptic transmission in medium spiny neurons. Although the NAc receives OT receptor-containing inputs from several brain regions, genetic deletion of these receptors specifically from dorsal raphe nucleus, which provides serotonergic (5-HT) innervation to the NAc, abolishes the reinforcing properties of social interaction. Furthermore, OT-induced synaptic plasticity requires activation of NAc 5-HT1b receptors, the blockade of which prevents social reward. These results demonstrate that the rewarding properties of social interaction in mice require the coordinated activity of OT and 5-HT in the NAc, a mechanistic insight with implications for understanding the pathogenesis of social dysfunction in neuropsychiatric disorders such as autism.

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“…A polymorphism in the promoter region of this gene (SLC6A4 LPR) was found associated with the disorder (Brune et al, 2006;Calahorro et al, 2009), level of language impairment (Kistner-Griffin et al, 2011) and childhood aggression (Beitchman et al, 2006). Genetic variants in 5-HT1B, 5-HT2A, 5-HT3A, 5-HT3C and 5-HT4A receptor genes have also been linked to the predisposition to ASD (Coutinho et al, 2004;Anderson et al, 2009;Orabona et al, 2009;Hranilovic et al, 2010). However, most of these findings have not been replicated in independent studies, and the reported genetic effects are relatively small.…”

Section: Brief Reportmentioning

confidence: 99%