Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort

Guo, Hui; Yu, Ping; Hu, Zhengmao; Liu, Ying; Xun, Guanglei; Ou, Jianjun; Sun, Liangdan; Xiong, Zhimin; Liu, Yanling; Wang, Tianyun; Chen, Jingjing; Lu, Xia; Bai, Ting; Shen, Yidong; Tian, Qi; Hu, Yuantai; Shen, Lu; Zhao, Rongjuan; Zhang, Xuejun; Zhang, Fengyu; Zhao, Jingping; Zou, Xiaobing; Xia, Kun

doi:10.1038/srep44155

Cited by 58 publications

(52 citation statements)

References 43 publications

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“…Neurological examination and check of features and signs were performed to exclude particular genetic diseases, for example, Down's syndrome, Angel's syndrome, and Fragile X syndrome. Karyotype analysis was performed to eliminate individuals with chromosomal abnormalities and large CNVs [Guo et al, ; Xia et al, ].…”

Section: Methodsmentioning

confidence: 99%

Genome‐wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders

et al. 2019

Autism Research

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Autism is a common neurodevelopmental disorder with a moderate to a high degree of heritability, but only a few common genetic variants that explain the heritability have been associated. We performed a genome‐wide transmission disequilibrium test analysis of a newly genotyped autism case–parent triad samples (127 trios) in Han Chinese, identified top association signals at multiple single nucleotide polymorphisms (SNPs), including rs9839376 (OR = 2.59, P = 1.27 × 10−05) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 × 10−05) and rs7274133 (OR = 0.313, P = 3.22 × 10−05) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 × 10−05) at EEF1A2. Furthermore, a genome‐wide combined P‐value of individual SNPs in two independent case–parent triad samples (total 402 triads, n = 1,206) identified SNPs at EGFLAM, ZDHHC2, AGBL1, and SNX29 as additional association signals for autism. While none of these signals achieved a genome‐wide significance in the two samples of our study, they have been reported in a previous genome‐wide association study of neuropsychiatric disorders, and the majority of these SNP have a significant cis‐regulatory association with mRNA in human tissues (false discovery rate (FDR) < 0.05). Our study warrants further study or replication with additional sample for association with autism and other neuropsychiatric disorders. Autism Res 2020, 13: 382–396. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Autism is a common neurodevelopmental disorder, heritable, but only a few common genetic variants that explain the heritability have been associated. We conducted a genome‐wide association study with two cohorts of autism case–parent triad samples in Han Chinese and identified multiple single nucleotide polymorphisms that were reported as strong association signals in a previous genome‐wide association study of other neuropsychiatric disorders or related traits. Our study provides evidence for shared genetic variants among autism and other neuropsychiatric disorders.

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Section: Methodsmentioning

confidence: 99%

Genome‐wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders

et al. 2019

Autism Research

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“…9 Another genome-wide CNV analysis of ASD trios, sporadic ASD cases and controls, found 32 CNV larger than 1 megabase in 31 patients. 12 These recurrent de novo CNV were found at various chromosomes. These were 15q11-13, Xp22.3, 15q13.1-13.2, 3p26.3, and 2p12.…”

Section: Pathways Of Causationmentioning

confidence: 99%

“…Thus, PARK2 could be viewed as one of the important genes implicated in ASD . Another genome‐wide CNV analysis of ASD trios, sporadic ASD cases and controls, found 32 CNV larger than 1 megabase in 31 patients . These recurrent de novo CNV were found at various chromosomes.…”

Section: Geneticsmentioning

confidence: 99%

“…These were 15q11‐13, Xp22.3, 15q13.1–13.2, 3p26.3, and 2p12. According to the same study, the GRAMD2 and STAM genes (which possibly encode signal‐transducing adaptor molecules, but whose functions remain largely unknown) were considered important risk genes in ASD …”

Section: Geneticsmentioning

confidence: 99%

“…According to the same study, the GRAMD2 and STAM genes (which possibly encode signaltransducing adaptor molecules, but whose functions remain largely unknown) were considered important risk genes in ASD. 12 Another area of research that has received attention recently is the oxytocin receptor gene (OXTR). Oxytocin has been identified as having a role in affiliative behavior and social bonding.…”

Section: Pathways Of Causationmentioning

confidence: 99%

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Autism spectrum disorder: Trends in research exploring etiopathogenesis

Gyawali

Patra

2019

Psychiatry Clin Neurosci

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Autism spectrum disorder is a neurodevelopmental condition in which affected individuals have difficulties while interacting and communicating socially, and repetitive behaviors. It has a multifactorial etiology. Various risk factors, including genetic and environmental influences, have been explored while trying to understand its causation. As older evidence was suggestive of a high heritability, a majority of research focused on finding the underlying genetic causes of autism. Due to these efforts, there have been advances in the knowledge of some of the genetic factors associated with autism. But a recent trend also shows an increasing interest in exploration of various potential environmental triggers. These efforts have brought us closer to understanding the elusive disorder more so than ever before. The current review discusses the recent trends in research exploring the etiopathogenesis of autism spectrum disorder.

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Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong

Cheng

Chan

Leung

et al. 2019

American J of Med Genetics Pt C

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Chromosomal microarray (CMA) is recommended as a first tier investigation for patients with developmental delay (DD), intellectual disability (ID), autistic spectrum disorder (ASD), and multiple congenital anomalies (MCA). It is widely used in the prenatal and postnatal settings for detection of chromosomal aberrations. This is a retrospective review of all array comparative genomic hybridization (aCGH/ array CGH) findings ascertained in two major prenatal and postnatal genetic diagnostic centers in Hong Kong from June 2012 to December 2017. Medical records were reviewed for cases with pathogenic and variants of uncertain clinical significance (VUS). Classification of copy number variants (CNVs) was based on current knowledge and experience by August 2018. The aims of this review are to study the diagnostic yield of array CGH application in prenatal and postnatal settings in Hong Kong and to describe the spectrum of abnormalities found. Prenatal indications included abnormal ultrasound findings, positive Down syndrome screening, abnormal noninvasive prenatal test results, advanced maternal age and family history of chromosomal or genetic abnormalities. Postnatal indications included unexplained DD, ID, ASD, and MCA. A total of 1,261 prenatal subjects and 3,096 postnatal patients were reviewed. The prenatal diagnostic yield of pathogenic CNV and VUS (excluding those detectable by karyotype) was 3.5%. The postnatal diagnostic yield of pathogenic CNV was 15.2%. The detection rates for well-defined microdeletion and microduplication syndromes were 4.6% in prenatal and 6.1% (1 in 16 index patients) in postnatal cases, respectively. Chromosomes 15, 16, and 22 accounted for over 21 and 25% of pathogenic CNVs detected in prenatal and postnatal cohorts, respectively. This review provides the first large scale overview of genomic imbalance of mostly Chinese patients in prenatal and postnatal settings.

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Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort

Cited by 58 publications

References 43 publications

Genome‐wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders

Genome‐wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders

Autism spectrum disorder: Trends in research exploring etiopathogenesis

Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong

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