Social Cognitive Role of Schizophrenia Candidate Gene GABRB2

Tsang, Suk Ying; Zhong, Songfa; Mei, Lingling; Chen, Jian‐Huan; Ng, Siu-Kin; Pun, Frank W.; Zhao, Cunyou; Jing, Bing-Yi; Chark, Robin; Guo, Jianhua; Tan, Yunlong; Li, Lijun; Wang, Chuanyue; Chew, Soo Hong; Xue, Hong

doi:10.1371/journal.pone.0062322

Cited by 25 publications

(18 citation statements)

References 46 publications

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“…This gene was found to be related to mental diseases, like schizophrenia [33, 34]. A recent study revealed that GABRB2 is highly upregulated in thyroid cancer [35].…”

Section: Discussionmentioning

confidence: 99%

A panel of four genes accurately differentiates benign from malignant thyroid nodules

Wang

Chen

Cai

et al. 2016

J Exp Clin Cancer Res

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BackgroundClinicians are confronted with an increasing number of patients with thyroid nodules. Reliable preoperative diagnosis of thyroid nodules remains a challenge because of inconclusive cytological examination of fine-needle aspiration biopsies. Although molecular analysis of thyroid tissue has shown promise as a diagnostic tool in recent years, it has not been successfully applied in routine clinical use, particularly in Chinese patients.MethodsWhole-transcriptome sequencing of 19 primary papillary thyroid cancer (PTC) samples and matched adjacent normal thyroid tissue (NT) samples were performed. Bioinformatics analysis was carried out to identify candidate diagnostic genes. Then, RT-qPCR was performed to evaluate these candidate genes, and four genes were finally selected. Based on these four genes, diagnostic algorithm was developed (training set: 100 thyroid cancer (TC) and 65 benign thyroid lesions (BTL)) and validated (independent set: 123 TC and 81 BTL) using the support vector machine (SVM) approach.ResultsWe discovered four genes, namely fibronectin 1 (FN1), gamma-aminobutyric acid type A receptor beta 2 subunit (GABRB2), neuronal guanine nucleotide exchange factor (NGEF) and high-mobility group AT-hook 2 (HMGA2). A SVM model with these four genes performed with 97.0 % sensitivity, 93.8 % specificity, 96.0 % positive predictive value (PPV), and 95.3 % negative predictive value (NPV) in training set. For additional independent validation, it also showed good performance (92.7 % sensitivity, 90.1 % specificity, 93.4 % PPV, and 89.0 % NPV).ConclusionsOur diagnostic panel can accurately distinguish benign from malignant thyroid nodules using a simple and affordable method, which may have daily clinical application in the near future.Electronic supplementary materialThe online version of this article (doi:10.1186/s13046-016-0447-3) contains supplementary material, which is available to authorized users.

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“…This gene was found to be related to mental diseases, like schizophrenia [33, 34]. A recent study revealed that GABRB2 is highly upregulated in thyroid cancer [35].…”

Section: Discussionmentioning

confidence: 99%

A panel of four genes accurately differentiates benign from malignant thyroid nodules

Wang

Chen

Cai

et al. 2016

J Exp Clin Cancer Res

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“…Type I diabetes mellitus diversity could be related to change of human diet 33 , and G-protein signalling pathway diversity could be associated with blood pressure control and metabolic diseases in general 34 35 . Cognition diversity is likely due to the development of cognition as a human trait, exemplified by the active recombination and positive selection in the AluYi6 region of GABRB2 found by us to be associated with not only schizophrenia and bipolar disorder but also social cognition 25 36 37 38 .…”

Section: Discussionmentioning

confidence: 90%

Feature co-localization landscape of the human genome

Long

et al. 2016

Sci Rep

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Although feature co-localizations could serve as useful guide-posts to genome architecture, a comprehensive and quantitative feature co-localization map of the human genome has been lacking. Herein we show that, in contrast to the conventional bipartite division of genomic sequences into genic and inter-genic regions, pairwise co-localizations of forty-two genomic features in the twenty-two autosomes based on 50-kb to 2,000-kb sequence windows indicate a tripartite zonal architecture comprising Genic zones enriched with gene-related features and Alu-elements; Proximal zones enriched with MIR- and L2-elements, transcription-factor-binding-sites (TFBSs), and conserved-indels (CIDs); and Distal zones enriched with L1-elements. Co-localizations between single-nucleotide-polymorphisms (SNPs) and copy-number-variations (CNVs) reveal a fraction of sequence windows displaying steeply enhanced levels of SNPs, CNVs and recombination rates that point to active adaptive evolution in such pathways as immune response, sensory perceptions, and cognition. The strongest positive co-localization observed between TFBSs and CIDs suggests a regulatory role of CIDs in cooperation with TFBSs. The positive co-localizations of cancer somatic CNVs (CNVT) with all Proximal zone and most Genic zone features, in contrast to the distinctly more restricted co-localizations exhibited by germline CNVs (CNVG), reveal disparate distributions of CNVTs and CNVGs indicative of dissimilarity in their underlying mechanisms.

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“…Later, other association studies between GABRB2 and SCZ showed controversial results. Some studies suggested a positive association [ 29 , 30 ], whereas others indicated a negative correlation [ 31 ]. Moreover, GWASs were often performed to detect causal or risk-conferring genes for common diseases [ 32 ].…”

Section: Introductionmentioning

confidence: 99%

Meta-analysis of GABRB2 polymorphisms and the risk of schizophrenia combined with GWAS data of the Han Chinese population and psychiatric genomics consortium

Zhang¹,

Li²,

Yu³

et al. 2018

PLoS ONE

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Schizophrenia (SCZ) is a severe psychiatric disorder with evidence of a strong genetic component in the complex etiologies. Some studies indicated that gamma-aminobutyric acid (GABA)A receptor β2 subunit gene (GABRB2) was associated with SCZ. Other studies reported a negative association. Moreover, the results of two previous meta-analyses of GABRB2 with SCZ were inconsistent and the sample sizes were limited. Therefore, an updated meta-analysis combined with genome-wide association study (GWAS) data of the Han Chinese population and Psychiatric Genomics Consortium (PGC) was performed. Available case–control and family-based genetic data were extracted from association studies, and the GWAS data were included. The findings showed no association between six single-nucleotide polymorphisms of GABRB2 (rs6556547, rs1816071, rs1816072, rs194072, rs252944, and rs187269) and SCZ in a total of 51,491 patients and 74,667 controls. The ethnic subgroup analysis revealed no significant association in Asian populations. Since the PGC data of SCZ (SCZ-PGC, 2014) contained 3 studies of Asian populations (1866 patients and 3418 controls), only the data of European samples in SCZ-PGC were used for the meta-analysis of the Caucasian population in the present study. The result still showed no association in the Caucasian population. In conclusion, the present meta-analysis on combined data from GWASs of the Han Chinese population and PGC suggested that GABRB2 polymorphisms might not be associated with SCZ.

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Social Cognitive Role of Schizophrenia Candidate Gene GABRB2

Cited by 25 publications

References 46 publications

A panel of four genes accurately differentiates benign from malignant thyroid nodules

A panel of four genes accurately differentiates benign from malignant thyroid nodules

Feature co-localization landscape of the human genome

Meta-analysis of GABRB2 polymorphisms and the risk of schizophrenia combined with GWAS data of the Han Chinese population and psychiatric genomics consortium

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