Rs7219 Regulates the Expression of GRB2 by Affecting miR-1288-Mediated Inhibition and Contributes to the Risk of Schizophrenia in the Chinese Han Population

Yang, Jialei; Guo, Xiaokui; Zhu, Lulu; Huang, Jiao; Long, Jianxiong; Chen, Qiang; Pan, Runde; Chen, Zhaoxia; Wu, Xulong; Su, Li

doi:10.1007/s10571-018-0639-9

Cited by 6 publications

(2 citation statements)

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“… 38 Several studies have demonstrated how some SNPs in the 3’UTRs may contribute to the etiology of SCZ by disrupting miRNA binding stability. 39 , 40 Therefore, we used miRBase 41 to predict potential new miRNA binding sites that the variant (c*31 G>A) can create, and miRWalk 42 and miRTarBase 43 databases to predict whether the variant affects currently identified miRNA binding sites. These in silico analysis showed that the variant did not affect either condition.…”

Section: Discussionmentioning

confidence: 99%

Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia

Durmaz¹,

Karabulut²,

Saka³

et al. 2022

Balkan Med J

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Background: RASD1 encodes Dexamethasone-induced Ras-related protein 1 (Dexras1), a protein with a critical role in signal transduction in neurons. There is a strong suspicion that dysfunction of Dexras1 might contribute to the pathogenesis of neuropsychiatric diseases. Related to its functions in intracellular signaling pathways, Dexras1 has a potential role in the etiology of schizophrenia because of its close interaction with NOS1, NOS1AP, and NMDAR, which have previously been associated with schizophrenia. Aims: To investigate the association of RASD1 variants with schizophrenia in a selected cohort from Turkey. Study Design: A case-control study. Methods: We performed targeted sequencing for the two exons, single intron, and untranslated regions of RASD1 gene in 200 individuals with schizophrenia and 100 healthy controls of Turkish origin. Results: Two rare variants, RASD1 (NM_016084.5): c.722A>T and c*31G>A were identified in individuals with schizophrenia but not in any controls. The c.722A>T was found in a single individual with schizophrenia and is a missense heterozygous variant in the second exon of RASD1 , which is extremely rare in GnomAD. The other variant, c*31G>A, which was found in another individual from this schizophrenia cohort, has not been reported previously. Seven previously identified common single nucleotide polymorphisms were also detected; however, they were not significantly associated with schizophrenia in this study cohort. Conclusion: Our findings suggest that rare variants of RASD1 might be contributing to the etiopathogenesis of schizophrenia. Further studies are needed to elucidate the underlying mechanism of this association.

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Section: Discussionmentioning

confidence: 99%

Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia

Durmaz¹,

Karabulut²,

Saka³

et al. 2022

Balkan Med J

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“…3′-UTR is a pivotal region which regulates gene expression, protein-protein interactions, and mRNA localization by binding with micro-RNAs (miRor RNA-binding proteins (RBPs) [49,50]. Several studies have reported that some SNPs affect the risk of schizophrenia because their alter alleles can change the binding stability of some miRNAs with the 3′-UTR of the gene [51][52][53]. Dysregulation of some miRNAs is associated with central nervous system diseases including schizophrenia [54].…”

Section: Discussionmentioning

confidence: 99%

Identification of rare and common variants in BNIP3L: a schizophrenia susceptibility gene

Zhou

Wang

et al. 2020

Hum Genomics

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Background Schizophrenia is a chronic and severe mental disorder, and it has been predicted to be highly polygenic. Common SNPs located in or near BNIP3L were found to be genome-wide significantly associated with schizophrenia in recent genome-wide association studies. The purpose of our study is to investigate potential causal variants in BNIP3L gene. Results We performed targeted sequencing for all exons and un-translated regions of BNIP3L gene among 1806 patients with schizophrenia and 998 healthy controls of Han Chinese origin. Three rare nonsynonymous mutations, BNIP3L (NM_004331): c.52A>G, c.167G>A and c.313A>T, were identified in schizophrenia cases, and two of them were newly reported. The frequencies of these rare nonsynonymous mutations were significantly different between schizophrenia cases and healthy controls. For the common variants, rs147389989 achieved significance in both allelic and genotypic distributions with schizophrenia. Rs1042992 and rs17310286 were significantly associated with schizophrenia in meta-analyses using PGC, CLOZUK, and our new datasets in this study. Conclusions Our findings provided further evidence that BNIP3L gene is a susceptibility gene of schizophrenia and revealed functional and potential causal mutations in BNIP3L. However, more functional validations are suggested to better understand the role of BNIP3L in the etiology of schizophrenia.

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