The association between GAD1 gene polymorphisms and cerebral palsy in Chinese infants

Lin, Sheyu; Li, Tongchuan; Zhu, Dengnan; Ma, Caiyun; Wang, Yinghong; He, Lin; Zhu, Changlian; Xing, Qinghe

doi:10.3103/s0095452713050071

Cited by 8 publications

(5 citation statements)

References 32 publications

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“…However, the research regarding lncRNA functions involved in SpA/AS is in its infancy. Furthermore, more attention to crucial sub-pathways instead of entire pathways may be more applicable to reveal the roles of lncRNAs in a given disease ( 13 ). Additionally, this subregion strategy integrating lncRNA-mRNA data and pathway topologies has a number of advantages.…”

Section: Discussionmentioning

confidence: 99%

“…In addition, searching for sub-pathways instead of the complete pathways may uncover more meaningful pathways and identify the functions of lncRNAs. The concept of key local subregion was created ( 13 ), which was used to successfully identify a number of important sub-pathways. So far, no data on lncRNA-regulated sub-pathways associated with SpA/AS has been reported.…”

Section: Introductionmentioning

confidence: 99%

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Identification of pathways significantly associated with spondyloarthropathy/ankylosing spondylitis using the sub‑pathway method

et al. 2018

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The aim of the present study was to extract potential sub-pathway biomarkers for spondyloarthropathy (SpA)/ankylosing spondylitis (AS) using a sub-pathway strategy. SpA/AS-relevant data, reference pathways and long non-coding (lnc)RNA-micro (mi)RNA-mRNA interactions were downloaded. The seed pathways based on Kyoto Encyclopedia of Genes and Genomes pathways and the mRNAs in the co-expressed lncRNA-mRNA interactions were extracted. Sub-pathways regulated by lncRNA were selected after establishing condition-specific lncRNA competitively regulated pathways (LCRP) network. Significant sub-pathways were further identified using the attract method. These significant sub-pathways were evaluated in the other independent published AS microarray data (E-GEOD-25101) using in silico validation. In addition, to uncover SpA/AS-relevant lncRNAs, the degree analysis for all nodes in the LCRP network was conducted. A total of 35 lncRNAs, 131 mRNAs and 145 co-expressed interactions were identified. When entering these 131 mRNAs into the reference pathways, 82 seed pathways were extracted, which were transformed into undirected graphs, and the 35 lncRNAs were mapped to the pathway graphs to further establish the condition-specific LCRP network. Based on degree analysis, four hub lncRNAs were selected, including C14orf169, LINC00242, LINC00116 and LINC00482. It was identified that 35 lncRNAs competitively regulating sub-pathways were involved in 56 complete pathways. Among these, the top three sub-pathways were path: 04010_1, which was a subregion of the mitogen-activated protein kinase (MAPK) signaling pathway; path: 04062-1, an important subregion in the chemokine signaling pathway; and path: 04066_2, was a part of HIF-1 signaling pathway. Furthermore, it was validated consistently in the separate microarray data set E-GEOD-25101. Cancer-associated pathways and hub node C14orf169 were identified in validation. Sub-pathways, including the MAPK signaling pathway and chemokine signaling pathway, and hub lncRNA (C14orf169) may serve important roles in SpA/AS.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Identification of pathways significantly associated with spondyloarthropathy/ankylosing spondylitis using the sub‑pathway method

et al. 2018

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“…Transmembrane protein 229A (TMEM229A) plays a major role in the binding of zona pellucida and participates in Ca 2+ signaling-associated acrosomal exocytosis (Lin et al, 2013a). Glutamate decarboxylase 1 (GAD1) encodes a glutamic acid decarboxylase that catalyzes the production of gamma-aminobutyric acid from l-glutamic acid (Lin et al, 2013b). Moreover, a study has demonstrated that dental pulp from exfoliated deciduous teeth expresses a variety of neural cell markers including β III-tubulin and GAD, and that dental pulp stem cells lose their fibroblastic morphology and develop multi-cytoplasmic processes correlated with β IIItubulin/GAD (Casagrande et al, 2011).…”

Section: Discussionmentioning

confidence: 99%

Identification of significantly different modules between permanent and deciduous teeth by network and pathway analyses

Kang¹,

Bai²,

Liu³

et al. 2016

Genet. Mol. Res.

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The differences in genetic backgrounds between deciduous and permanent teeth might contribute to the differences in developmental processes, histological characteristics, and tooth life cycles. Here, we attempted to identify significantly different modules between permanent and deciduous teeth via network and pathway analyses. We identified 291 differentially expressed genes (DEGs) between permanent and deciduous teeth using significance analysis of microarray methods. Co-expression networks of DEGs were constructed by weighted gene co-expression network analysis (WGCNA). Three pathways with a significant number of DEGs and P value <0.01 were identified. Integrated co-expression network and pathway (pathway and adjacent gene) analyses were used to extract three pathway-related modules: the calcium signaling pathway-related, ECM-receptor interaction pathway-related, and neuroactive ligand-receptor interaction pathway-related modules. We also attempted to analyze the topological centralities (degree, closeness, stress, and betweenness) of co-expression networks and modules. Four genes (TMEM229A, PPAPDC1A, LEPREL1, and GAD1) and three pathway-related modules that were significantly different in the deciduous and permanent teeth showed similar properties and good centralities. The relative expression levels of key genes were validated, and the differential expression of TMEM229A, LEPREL1, and GAD1 was confirmed by reverse transcription-polymerase chain reaction (P < 0.05). In conclusion, the results of this study may provide a greater understanding of the molecular pathogenesis and potential biomarkers of the progression from deciduous to permanent teeth.

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“…При исследованиях, выполненных по такому же дизайну, выявлены следующие аномалии, ассоциированные с формированием фенотипа ЦП: -мутации 6 генов с вариациями GAD1, KANK1, AP4M1, AP4E1, AP4B1 и AP4S1 (ассоциированы с менделевскими формами наследования) [47]; -унаследованная от матери микродупликация 7q21.13, захватывающая гены ZNF804B, MGC26647, STEAPl, и микродупликация 14q23.1, захватывающая ген DAAM1 с неопределенной клинической значимостью [44]; -ассоциированность гена AP4B1 с ЦП [67]; -мутации в АР4М1 [63]; -мутации гена GAD1 (ассоциированные с развитием смешанных форм ЦП) [34]; -гомозиготная мутация p. G367D в гене ADD3, влияющем на гамма-аддукцию; -мутация гена BTD, ассоциированная с формированием атактического синдрома [21,24]; -гетерозиготность по 2 независимым мутациям в гене белка С (PROC) с дефицитом протеина С [16]; -делеции в локусе 6q25, связываемые с гипотонией, задержкой развития, глазной патологией, краниофациальными аномалиями и структурными нарушениями в мозге [51]; -мутации в AP4S1 / SPG52 с дефицитом адапторного белка 4 (АР-4) [57]; -делеции в ANKRD15 [30]; -рекуррентные делеции 2p25.3 и 22q11.2 [9]; -миссенс-мутация de novo в GAD67 [35].…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

Congenital cerebral palsy: genetic cause and nosological integrity

Соколов¹,

Чебаненко

Zykov

et al. 2021

Rus. ž. det. nevrol.

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The review provides an analysis of 73 full-text articles, the source of which was the Medline, OMIM, NCBI, Pubmed, Scopus, eLibrary.ru databases. The data of studies of the main pathogenetic mechanisms of the formation of the cerebral palsy (CP) phenotype, such as chromosomal aberrations, copy number variations, single nucleotide polymorphisms, associated with the development of the CP phenotype, are reviewed and analyzed. Epigenetic effects on the genome, as well as the effects of the genome on the mechanisms of epigenomic regulation, are examined in detail. The data on the genetic determinism of concomitant pathology and reactivity to therapeutic tactics are presented. Based on the study of data from numerous studies, the authors draw the following conclusions:1) the pathogenesis of the phenotype of CP includes a large number of genes that determine violations of cellular metabolism, neuroontogenesis, brain resistance to hypoxia, etc;2) genes whose abnormalities form a syndromic pathology are involved in the pathogenesis of CP;3) the multidirectionality and breadth of the effects of the gene pool with the outcome in a syndrome-specific distinctive picture of the CP allows us to propose the concept of a neurotropic genome;4) the mechanisms of gene involvement can vary from aberrations to epigenetic imbalances;5) different groups of genes can differentially influence the formation of individual syndromes in the phenotype of CP;6) there are data indicating a genetic determinism of the tendency to contracture, pharmacoreactivity to drugs that reduce muscle tone, reactivity to habilitation effects;7) genomic-epigenomic interactions normally ensure the body’s adaptation to environmental conditions, and with pathology, they increase the likelihood of regulatory breakdowns that lead to the formation of a CP phenotype;8) the exclusion from the diagnosis of CP of genetically determined cases of phenotype development is incorrect.The authors present two anthropogenic reasons for the increase in the frequency of occurrence of de novo identified gene abnormalities:1) anthropogenic impact on the environment, increasing the number of anomalies of the genome de novo; 2) iatrogenic effects of technologies for preserving life, vitality and reproductive ability of carriers of genomic anomalies. This effect leads to the fixation of anomalies in the genome of the population.A paradox is formulated, according to which, in the presence of technologies capable of preserving the life of carriers of genomic anomalies, in vivo technologies for genome correction are only just beginning to be put into practice. Based on this, it is concluded that it is necessary to intensify the development of methods for prenatal diagnosis and gene therapy of CP.

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The association between GAD1 gene polymorphisms and cerebral palsy in Chinese infants

Abstract: Studies suggest that GAD1 gene was a functional candidate susceptibility gene for cerebral palsy (CP

Cited by 8 publications

References 32 publications

Identification of pathways significantly associated with spondyloarthropathy/ankylosing spondylitis using the sub‑pathway method

Identification of pathways significantly associated with spondyloarthropathy/ankylosing spondylitis using the sub‑pathway method

Identification of significantly different modules between permanent and deciduous teeth by network and pathway analyses

Congenital cerebral palsy: genetic cause and nosological integrity

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