Integrative analysis of shared genetic pathogenesis by autism spectrum disorder and obsessive-compulsive disorder

Liu, Dongbai; Cao, Hongbao; Kural, Kamil Can; Fang, Qi; Zhang, Fuquan

doi:10.1042/bsr20191942

Cited by 25 publications

(14 citation statements)

References 29 publications

(29 reference statements)

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“…Additionally, genes carrying de novo damaging variants in OCD probands significantly overlapped with genes associated with ASD, Tourette’s syndrome (TS), and other neurodevelopmental disorders and were enriched for immune system pathways. Similar findings were reported in another study which found a significant overlap between genes associated with OCD and genes associated with ASD; in addition, the overlapping genes were significantly enriched for biological pathways related to brain function 54 .…”

Section: Genome Variantssupporting

confidence: 89%

Cutting-edge genetics in obsessive-compulsive disorder

Saraiva¹,

Cappi²,

Simpson³

et al. 2020

Fac Rev

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This article reviews recent advances in the genetics of obsessive-compulsive disorder (OCD). We cover work on the following: genome-wide association studies, whole-exome sequencing studies, copy number variation studies, gene expression, polygenic risk scores, gene–environment interaction, experimental animal systems, human cell models, imaging genetics, pharmacogenetics, and studies of endophenotypes. Findings from this work underscore the notion that the genetic architecture of OCD is highly complex and shared with other neuropsychiatric disorders. Also, the latest evidence points to the participation of gene networks involved in synaptic transmission, neurodevelopment, and the immune and inflammatory systems in this disorder. We conclude by highlighting that further study of the genetic architecture of OCD, a great part of which remains to be elucidated, could benefit the development of diagnostic and therapeutic approaches based on the biological basis of the disorder. Studies to date revealed that OCD is not a simple homogeneous entity, but rather that the underlying biological pathways are variable and heterogenous. We can expect that translation from bench to bedside, through continuous effort and collaborative work, will ultimately transform our understanding of what causes OCD and thus how best to treat it.

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Section: Genome Variantssupporting

confidence: 89%

Cutting-edge genetics in obsessive-compulsive disorder

Saraiva¹,

Cappi²,

Simpson³

et al. 2020

Fac Rev

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show abstract

“…In this study, we attempted to use a system biology approach to identify the not-yet discovered connections between both diseases, including the data mining of disease-gene relation data, the analysis of molecular pathways, and a mega-analysis of existing expression datasets. The integrated analysis of multiple modalities of data has been proven to be an effective way for disease mechanism study (Liu et al, 2019;Zhang et al, 2019;Lian et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

Five genes influenced by obesity may contribute to the development of thyroid cancer through the regulation of insulin levels

Chen

Cao

Lian

et al. 2020

PeerJ

Self Cite

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Previous studies indicate that obesity is an important contributor to the proceeding of thyroid cancer (TC) with limited knowledge of the underlying mechanism. Here, we hypothesize that molecules affected by obesity may play roles in the development of TC. To test the hypothesis above, we first conducted a large-scale literature-based data mining to identify genes influenced by obesity and genes related to TC. Then, a mega-analysis was conducted to study the expression changes of the obesity-specific genes in the case of TC, using 16 independent TC array-expression datasets (783 TC cases and 439 healthy controls). After that, pathway analysis was performed to explore the functional profile of the selected target genes and their potential connections with TC. We identified 1,036 genes associated with TC and 534 regulated by obesity, demonstrating a significant overlap (N = 176, p-value = 4.07e−112). Five out of the 358 obesity-specific genes, FABP4, CFD, GHR, TNFRSF11B, and LTF, presented significantly decreased expression in TC patients (LFC<−1.44; and p-value < 1e−7). Multiple literature-based pathways were identified where obesity could promote the pathologic development of TC through the regulation of these five genes and INS levels. The five obesity genes uncovered could be novel genes that play roles in the etiology of TC through the modulation of INS levels.

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“…social difficulties, language characteristics, and executive functions) and may share genetic pathways (Antshel & Russo, 2019; May et al, 2018). There have been similarly noted genetic overlaps between autism and obsessive-compulsive disorder (Liu et al, 2019) as well as schizophrenia (Y. S. Chung et al, 2014) and similarly noted overlapping characteristics in other diagnoses like developmental coordination disorder (Sumner et al, 2016).…”

Section: Methodsmentioning

confidence: 98%

Production and comprehension of pronouns in individuals with autism: A meta-analysis and systematic review

Finnegan

Asaro-Saddler

Zajic

2020

Autism

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This study compared pronoun use in individuals with autism to their typically developing peers via meta-analysis and systematic review of 20 selected articles to examine differences in overall pronoun usage as well as in personal, ambiguous, possessive, reflexive, and clitic pronoun usage. Summary effects indicated significant differences between individuals with autism and their typically developing peers in the use of pronouns overall as well as in ambiguous, clitic, and reflexive pronoun usage, but not in personal and possessive pronoun usage. Results indicate wide variation in the way individuals with autism use pronouns, and individual outcomes appeared to be moderated by multiple factors, including cognitive ability, first language, and overall language development. Implications and recommendations for assessment and intervention practices are discussed. Lay abstract This research compared pronoun use in individuals with autism and typically developing peers. Meta-analysis and systematic review of 20 selected articles were used to determine whether significant differences existed in the use of pronouns overall as well as in personal, ambiguous, possessive, reflexive, and clitic pronoun usage. Summary effects indicated significant differences between individuals with autism and their typically developing peers in the use of pronouns overall as well as in ambiguous, clitic, and reflexive pronoun usage, but not in personal and possessive pronoun usage. Results indicate wide variation in the way individuals with autism use pronouns. Since individual outcomes appear to be moderated by multiple factors, including cognitive ability, first language, and overall language development, it is recommended these be considered in assessment and treatment.

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Integrative analysis of shared genetic pathogenesis by autism spectrum disorder and obsessive-compulsive disorder

Cited by 25 publications

References 29 publications

Cutting-edge genetics in obsessive-compulsive disorder

Cutting-edge genetics in obsessive-compulsive disorder

Five genes influenced by obesity may contribute to the development of thyroid cancer through the regulation of insulin levels

Production and comprehension of pronouns in individuals with autism: A meta-analysis and systematic review

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