Glutamate receptor, metabotropic 7 (<i>GRM7</i>) gene variations and susceptibility to autism: A case–control study

Noroozi, Rezvan; Taheri, Mohammad; Movafagh, Abolfazl; Mirfakhraie, Reza; Solgi, Ghasem; Sayad, Arezou; Mazdeh, Mehrdokht; Darvish, Hossein

doi:10.1002/aur.1640

“…These two polymorphisms exhibited significant associations with ASD from a group of 22 ASD patients ( Yang and Pan, 2013 ). In an Iranian cohort of 518 ASD patients, however, only rs779867 was identified as a SNP that associates GRM7 with ASD ( Noroozi et al, 2016 ). rs779867 is a T to C or T to G polymorphism in intron 5 hypothesized to have effects on a MRG protein binding motif.…”

Section: Genetic Associations Between Mglu 7 and Nmentioning

confidence: 99%

Metabotropic Glutamate Receptor 7: A New Therapeutic Target in Neurodevelopmental Disorders

Fisher

¹

,

Seto

²

,

Lindsley

³

et al. 2018

Front. Mol. Neurosci.

View full text Add to dashboard Cite

Neurodevelopmental disorders (NDDs) are characterized by a wide range of symptoms including delayed speech, intellectual disability, motor dysfunction, social deficits, breathing problems, structural abnormalities, and epilepsy. Unfortunately, current treatment strategies are limited and innovative new approaches are sorely needed to address these complex diseases. The metabotropic glutamate receptors are a class of G protein-coupled receptors that act to modulate neurotransmission across many brain structures. They have shown great promise as drug targets for numerous neurological and psychiatric diseases. Moreover, the development of subtype-selective allosteric modulators has allowed detailed studies of each receptor subtype. Here, we focus on the metabotropic glutamate receptor 7 (mGlu7) as a potential therapeutic target for NDDs. mGlu7 is expressed widely throughout the brain in regions that correspond to the symptom domains listed above and has established roles in synaptic physiology and behavior. Single nucleotide polymorphisms and mutations in the GRM7 gene have been associated with idiopathic autism and other NDDs in patients. In rodent models, existing literature suggests that decreased mGlu7 expression and/or function may lead to symptoms that overlap with those of NDDs. Furthermore, potentiation of mGlu7 activity has shown efficacy in a mouse model of Rett syndrome. In this review, we summarize current findings that provide rationale for the continued development of mGlu7 modulators as potential therapeutics.

show abstract

“…Their study found that genotypes of rs779867 and rs6782011, and their haplotype (T-C) were statistically signi cantly correlated with ASD. In another population based case-control study, both rs6782011 and rs779867 were examined in 518 Iranian ASD patients and 472 control individuals and results showed that genotypes of rs779867, and haplotypes of rs779867-rs6782011 were signi cantly associated with ASD [21]. A recent study extracted genomic data for 487 ASD patients and 455 healthy individuals.…”

Section: Discussionmentioning

confidence: 99%

A Study of Genetic Variants in Genes of Glutamate Signaling and Risk of Childhood Autism Spectrum Disorder

Liu

¹

,

Yu

²

,

Hu

³

et al. 2020

Preprint

0

View full text Add to dashboard Cite

Background: Dysfunction of glutamate signaling has been implicated in the etiology of autism spectrum disorder (ASD). This case-control study was to examine the association between childhood ASD and single nucleotide polymorphisms (SNPs) in genes of the glutamate signaling pathway in a Chinese Han population.Methods: A total of 12 SNPs in the SLC1A1, SLC25A12, GRM7 and GRM8 genes were examined. The Children Autism Rating Scale (CARS) was applied to evaluate the severity of the disease. The relationship between SNPs and the risk of ASD or the severity of the disease was determined by logistic regression.Results: The T allele of rs2292813 in the SLC25A12 gene was significantly associated with an increased risk of ASD (odds ratio (OD) =1.7, 95% confidence interval (CI): 1.1-2.6, P=0.0107). Other examined SNPs were not associated with the risk of ASD. None of the SNPs examined were associated with the severity of ASD.Conclusions: Our findings support the involvement of SNPs in the SLC25A12 gene, but not SNPs in the SLC1A1, GRM7 and DRM8 genes, in the development of childhood ASD in the Chinese Han population.

show abstract

“…The correlation between SNPs in SLC1A1, SLC25A12, GRM7 and GRM8 genes has been reported in previous studies with inconsistent results [18,19] [20][21][22][23]. It is noted that most studies investigated these genes individually.…”

Section: Introductionmentioning

confidence: 92%

A Study of Genetic Variants in Genes of Glutamate Signaling and Risk of Childhood Autism Spectrum Disorder

Liu

¹

,

Yu

²

,

Hu

³

et al. 2020

Preprint

0

View full text Add to dashboard Cite

Background: Dysfunction of glutamate signaling has been implicated in the etiology of autism spectrum disorder (ASD). This case-control study was to examine the association between childhood ASD and single nucleotide polymorphisms (SNPs) in genes of the glutamate signaling pathway in a Chinese Han population.Methods: A total of 12 SNPs in the SLC1A1, SLC25A12, GRM7 and GRM8 genes were examined. The Children Autism Rating Scale (CARS) was applied to evaluate the severity of the disease. The relationship between SNPs and the risk of ASD or the severity of the disease was determined by logistic regression.Results: The T allele of rs2292813 in the SLC25A12 gene was significantly associated with an increased risk of ASD (odds ratio (OD) =1.7, 95% confidence interval (CI): 1.1-2.6, P=0.0107). Other examined SNPs were not associated with the risk of ASD. None of the SNPs examined were associated with the severity of ASD.Conclusions: Our findings support the involvement of SNPs in the SLC25A12 gene, but not SNPs in the SLC1A1, GRM7 and DRM8 genes, in the development of childhood ASD in the Chinese Han population.

show abstract

Glutamate receptor, metabotropic 7 (GRM7) gene variations and susceptibility to autism: A case–control study

Cited by 46 publications

References 49 publications

Metabotropic Glutamate Receptor 7: A New Therapeutic Target in Neurodevelopmental Disorders

Metabotropic Glutamate Receptor 7: A New Therapeutic Target in Neurodevelopmental Disorders

A Study of Genetic Variants in Genes of Glutamate Signaling and Risk of Childhood Autism Spectrum Disorder

A Study of Genetic Variants in Genes of Glutamate Signaling and Risk of Childhood Autism Spectrum Disorder

Contact Info

Product

Resources

About