scholarly journals Polymorphisms of Ionotropic Glutamate Receptor-Related Genes and the Risk of Autism Spectrum Disorder in a Chinese Population

2019 ◽  
Vol 16 (5) ◽  
pp. 379-385 ◽  
Author(s):  
Xinyan Xie ◽  
Fang Hou ◽  
Li Li ◽  
Yanlin Chen ◽  
Lingfei Liu ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Glutamate Receptor ◽  
Chinese Population ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Ionotropic Glutamate Receptor

scholarly journals Association Between HLA-B Polymorphisms and Autism Spectrum Disorder in Chinese Population

2020 ◽  
Vol 30 (1) ◽  
Author(s):  
Guojun Kang ◽  
Qi Kang ◽  
Xiaojing Zhu ◽  
Rixin Li ◽  
Shangchao Zhang ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Chinese Population ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Idiopathic Autism Spectrum Disorder and Fragile X Syndrome: A Pilot Study

2021 ◽  
Vol 22 (6) ◽  
pp. 2863
Author(s):  
James Robert Brašić ◽  
Ayon Nandi ◽  
David S. Russell ◽  
Danna Jennings ◽  
Olivier Barret ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Fragile X Syndrome ◽  
Glutamate Receptor ◽  
Metabotropic Glutamate Receptor ◽  
Fragile X ◽  
Single Gene ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Receptor Subtype ◽  
Metabotropic Glutamate

Multiple lines of evidence suggest that dysfunction of the metabotropic glutamate receptor subtype 5 (mGluR5) plays a role in the pathogenesis of autism spectrum disorder (ASD). Yet animal and human investigations of mGluR5 expression provide conflicting findings about the nature of dysregulation of cerebral mGluR5 pathways in subtypes of ASD. The demonstration of reduced mGluR5 expression throughout the living brains of men with fragile X syndrome (FXS), the most common known single-gene cause of ASD, provides a clue to examine mGluR5 expression in ASD. We aimed to (A) compare and contrast mGluR5 expression in idiopathic autism spectrum disorder (IASD), FXS, and typical development (TD) and (B) show the value of positron emission tomography (PET) for the application of precision medicine for the diagnosis and treatment of individuals with IASD, FXS, and related conditions. Two teams of investigators independently administered 3-[18F]fluoro-5-(2-pyridinylethynyl)benzonitrile ([18F]FPEB), a novel, specific mGluR5 PET ligand to quantitatively measure the density and the distribution of mGluR5s in the brain regions, to participants of both sexes with IASD and TD and men with FXS. In contrast to participants with TD, mGluR5 expression was significantly increased in the cortical regions of participants with IASD and significantly reduced in all regions of men with FXS. These results suggest the feasibility of this protocol as a valuable tool to measure mGluR5 expression in clinical trials of individuals with IASD and FXS and related conditions.

scholarly journals Polymorphisms in Vitamin D Receptor Genes in Association with Childhood Autism Spectrum Disorder

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Zengyu Zhang ◽  
Sufang Li ◽  
Lianfang Yu ◽  
Jun Liu
Keyword(s):  
Autism Spectrum Disorder ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Chinese Population ◽  
Autism Spectrum ◽  
Han Chinese ◽  
Spectrum Disorder ◽  
Taqman Probe ◽  
Vdr Gene ◽  
Han Chinese Population

Both genetic and environmental factors have been implicated in the etiology of autism spectrum disorder (ASD). This case-control study aimed to determine the association of single-nucleotide polymorphisms (SNPs) rs731276 (TaqI), rs1568820 (Cdx2), rs1544410 (BsmI), and rs2228570 (FokI) in the vitamin D receptor (VDR) gene with susceptibility of childhood ASD and severity of the disease. A total of 201 children with ASD and 200 healthy controls from the Han Chinese population were recruited. SNP genotyping was carried out by TaqMan probe-based real-time PCR using genomic DNA extracted from blood cells. Among four examined SNPs, only the CT genotype (odds ratio (OR) = 1.96, 95% confidence interval (CI) = 1.05–3.68,P=0.0351) and the C allele (OR = 1.88, 95% CI = 1.02–3.46,P=0.0416) of the rs731276 were significantly associated with increased risks of childhood ASD. None of the SNPs were associated with severity of childhood ASD. Our results reveal that certain polymorphisms in the VDR gene are a risk factor related to childhood ASD in the Han Chinese population.

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