Association between <i>CNTNAP2</i> polymorphisms and autism: A family‐based study in the chinese han population and a meta‐analysis combined with GWAS data of psychiatric genomics consortium

Zhang, Tian; Zhang, Jishui; Wang, Ziqi; Jia, Mengmeng; Lu, Tianlan; Wang, Han; Yue, Weihua; Zhang, Dai; Li, Jun; Wang, Lifang

doi:10.1002/aur.2078

Cited by 16 publications

(12 citation statements)

References 43 publications

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“…According to the AutDB database (http://autism.mindspec.org/autdb/Welcome.do, updated January 2020), 3145 animal models of ASD, including inbred, induced and genetic mouse models, are currently available. Genetic studies demonstrated that mutations in several genes coding for synaptic proteins, such as SHANK3 [2], NLGN3, NLGN4X [3], CNTNAP2 [4] and GABRB3 [5], are associated with ASD. Furthermore, ASD is syndromic with other neuropsychiatric conditions with single gene mutations including Fragile X syndrome (FMR1) [6], tuberous sclerosis (either TSC1 or TSC2) [7], Cowden syndrome (PTEN) [8] and Angelman syndrome (UBE3A) [9].…”

Section: Introductionmentioning

confidence: 99%

Oxidative Stress and Immune System Dysfunction in Autism Spectrum Disorders

Pangrazzi

Balasco

Bozzi

2020

IJMS

133

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Autism Spectrum Disorders (ASDs) represent a group of neurodevelopmental disorders associated with social and behavioral impairments. Although dysfunctions in several signaling pathways have been associated with ASDs, very few molecules have been identified as potentially effective drug targets in the clinic. Classically, research in the ASD field has focused on the characterization of pathways involved in neural development and synaptic plasticity, which support the pathogenesis of this group of diseases. More recently, immune system dysfunctions have been observed in ASD. In addition, high levels of reactive oxygen species (ROS), which cause oxidative stress, are present in ASD patients. In this review, we will describe the major alterations in the expression of genes coding for enzymes involved in the ROS scavenging system, in both ASD patients and ASD mouse models. In addition, we will discuss, in the context of the most recent literature, the possibility that oxidative stress, inflammation and immune system dysfunction may be connected to, and altogether support, the pathogenesis and/or severity of ASD. Finally, we will discuss the possibility of novel treatments aimed at counteracting the interplay between ROS and inflammation in people with ASD.

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Section: Introductionmentioning

confidence: 99%

Oxidative Stress and Immune System Dysfunction in Autism Spectrum Disorders

Pangrazzi

Balasco

Bozzi

2020

IJMS

133

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“…Out of the remaining six articles, two were already in our dataset from the literature search from PubMed. Finally, four articles from the GWAS catalog were manually added to 27 articles previously screened from PubMed, leading to a total of 31 eligible articles [ 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 ] being included in the systematic review ( Figure 1 ).…”

Section: Resultsmentioning

confidence: 99%

Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis

Lee

Son

et al. 2020

Brain Sciences

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This study aimed to verify noteworthy findings between genetic risk factors and autism spectrum disorder (ASD) by employing the false positive report probability (FPRP) and the Bayesian false-discovery probability (BFDP). PubMed and the Genome-Wide Association Studies (GWAS) catalog were searched from inception to 1 August, 2019. We included meta-analyses on genetic factors of ASD of any study design. Overall, twenty-seven meta-analyses articles from literature searches, and four manually added articles from the GWAS catalog were re-analyzed. This showed that five of 31 comparisons for meta-analyses of observational studies, 40 out of 203 comparisons for the GWAS meta-analyses, and 18 out of 20 comparisons for the GWAS catalog, respectively, had noteworthy estimations under both Bayesian approaches. In this study, we found noteworthy genetic comparisons highly related to an increased risk of ASD. Multiple genetic comparisons were shown to be associated with ASD risk; however, genuine associations should be carefully verified and understood.

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“…Another study in the same Chinese Han population showed a significant correlation between ASD and haplotype T-A (rs7794745-rs10500171, P = 0.011) or haplotype A-T-A (rs10244837-rs7794745-rs10500171) of the CNTNAP2 gene [ 34 ]. However, several other studies reported no significant association between rs7794745 and the risk of ASD [ 18 , 19 ].…”

Section: Discussionmentioning

confidence: 99%

“…Transgenic mice lacking Cntnap2 display striking similarity to the core deficits in behavioral and cognitive functions observed in patients with ASD [ 14 ]. The intronic SNP rs7794745 in the CNTNAP2 gene was reported to be a risk factor for ASD in some studies [ 15 – 17 ], but not others [ 18 , 19 ].…”

Section: Introductionmentioning

confidence: 99%

Association between Genetic Variants in DUSP15, CNTNAP2, and PCDHA Genes and Risk of Childhood Autism Spectrum Disorder

Fang

Liu

et al. 2021

Behavioural Neurology

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Objective. Genetic factors play an important role in the development of autism spectrum disorder (ASD). This case-control study was to determine the association between childhood ASD and single nucleotide polymorphisms (SNPs) rs3746599 in the DUSP15 gene, rs7794745 in the CNTNAP2 gene, and rs251379 in the PCDHA gene in a Chinese Han population. Methods. Genotypes of SNPs were examined in DNA extracted from blood cells from 201 children with ASD and 200 healthy controls. The Children Autism Rating Scale (CARS) was applied to evaluate the severity of the disease and language impairment. The relationship between SNPs and the risk of ASD or the severity of the disease was determined by logistic regression and one-way ANOVA. Results. The genotype G/G of rs3746599 in the DUSP15 gene was significantly associated with a decreased risk of ASD (odds ratio OR = 0.65 , 95% confidence interval (CI): 0.42-0.99, P = 0.0449 ). The T allele of rs7794745 in the CNTNAP2 gene was associated with an increased risk of ASD ( OR = 1.34 , 95% CI: 1.01-1.77, P = 0.0435 ). The SNP rs251379 was not associated with ASD. Though none of the SNPs examined were associated with ASD severity, rs7794745 was associated with severity of language impairment. Conclusions. Our findings suggest that both rs3746599 in the DUSP15 gene and rs7794745 in the CNTNAP2 gene are associated with risk of childhood ASD, and rs7794745 is also related to the severity of language impairment in autistic children from a Chinese Han population.

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Association between CNTNAP2 polymorphisms and autism: A family‐based study in the chinese han population and a meta‐analysis combined with GWAS data of psychiatric genomics consortium

Cited by 16 publications

References 43 publications

Oxidative Stress and Immune System Dysfunction in Autism Spectrum Disorders

Oxidative Stress and Immune System Dysfunction in Autism Spectrum Disorders

Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis

Association between Genetic Variants in DUSP15, CNTNAP2, and PCDHA Genes and Risk of Childhood Autism Spectrum Disorder

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