Association of DTNBP1 With Schizophrenia: Findings From Two Independent Samples of Han Chinese Population

Yang, Yongfeng; Zhang, Luwen; Dong, Guo; Zhang, Lin; Yu, Hong‐Ren; Liu, Qing; Su, Xi; Shao, Ming; Song, Men; Zhang, Yan; Ding, Mingmin; Lu, Yanli; Liu, Bing; Li, Wenqiang; Yue, Weihua; Fan, Xiaoduo; Yang, Ge; Lv, Luxian

doi:10.3389/fpsyt.2020.00446

Cited by 9 publications

(9 citation statements)

References 40 publications

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“…Expression of α-Dystrobrevin ( DTNA ), which a paralog of DTNB , has been associated with dementia status and P-tau levels in temporal cortex [ 53 ]. Dystrobrevin-binding protein 1, also known as dysbindin, has been reported to be associated with schizophrenia [ 54 , 55 ]. Thus, both novel AD gene candidates identified in this study have been associated with post-synaptic function.…”

Section: Discussionmentioning

confidence: 99%

Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer’s disease-associated genes: DTNB and DLG2

Prokopenko

Lee²,

Hecker³

et al. 2022

Mol Psychiatry

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Alzheimer’s disease (AD) is a genetically complex disease for which nearly 40 loci have now been identified via genome-wide association studies (GWAS). We attempted to identify groups of rare variants (alternate allele frequency <0.01) associated with AD in a region-based, whole-genome sequencing (WGS) association study (rvGWAS) of two independent AD family datasets (NIMH/NIA; 2247 individuals; 605 families). Employing a sliding window approach across the genome, we identified several regions that achieved association p values <10−6, using the burden test or the SKAT statistic. The genomic region around the dystobrevin beta (DTNB) gene was identified with the burden and SKAT test and replicated in case/control samples from the ADSP study reaching genome-wide significance after meta-analysis (pmeta = 4.74 × 10−8). SKAT analysis also revealed region-based association around the Discs large homolog 2 (DLG2) gene and replicated in case/control samples from the ADSP study (pmeta = 1 × 10−6). In conclusion, in a region-based rvGWAS of AD we identified two novel AD genes, DLG2 and DTNB, based on association with rare variants.

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Section: Discussionmentioning

confidence: 99%

Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer’s disease-associated genes: DTNB and DLG2

Prokopenko

Lee²,

Hecker³

et al. 2022

Mol Psychiatry

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“…Dysregulated KIF expression has also been associated with early AD pathology 29 , and β-Dystrobrevin interacts directly with kinesin heavy chain in the brain 30 . Dystrobrevin-binding protein 1, also known as dysbindin, has been reported to be associated with schizophrenia 31,32 . Thus, both novel AD gene candidates identified in this study have been associated with post-synaptic function and schizophrenia.…”

Section: Discussionmentioning

confidence: 99%

Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer’s disease-associated genes: DTNB and DLG2

Prokopenko

Hecker

et al. 2021

Preprint

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Alzheimer's disease (AD) is a genetically complex disease for which roughly 30 genes have been identified via genome-wide association studies. We attempted to identify rare variants (minor allele frequency <0.01) associated with AD in a region-based, whole genome sequencing (WGS) association study (GSAS) of two independent AD family datasets (NIMH/NIA; 2247 individuals; 605 families). Employing a sliding window approach across the genome, we identified several regions that achieved p-values < 10-6, using the burden test or the SKAT statistic. The genomic region around the dystobrevin beta (DTNB) gene was identified with the burden test and replicated in case/control samples from the ADSP study (pmeta= 4.74*10-8). SKAT analysis revealed region-based association around the discs large homolog 2 (DLG2) gene and replicated in case/control samples from the ADSP study (pmeta=1*10-6). Here, in a region-based GSAS of AD we identified two novel AD genes, DLG2 and DTNB, based on association with rare variants.

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“…This protein is involved in hippocampal formation [76], highlighting its role in cognitive processes critical to schizophrenia [77]. In recent years, several studies have associated the presence of single-nucleotide polymorphisms (SNPs) with cognitive deficit in schizophrenia [78,79]. Another gene related to neurodevelopment is DISC1, which participates in the acquisition of neuronal phenotypic features including axonal growth and dendritic spine formation, and in neuronal intracellular transport [80].…”

Section: Genetic Findingsmentioning

confidence: 99%

Cognitive Deficit in Schizophrenia: From Etiology to Novel Treatments

Martínez

Brea

Rico

et al. 2021

IJMS

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Schizophrenia is a major mental illness characterized by positive and negative symptoms, and by cognitive deficit. Although cognitive impairment is disabling for patients, it has been largely neglected in the treatment of schizophrenia. There are several reasons for this lack of treatments for cognitive deficit, but the complexity of its etiology—in which neuroanatomic, biochemical and genetic factors concur—has contributed to the lack of effective treatments. In the last few years, there have been several attempts to develop novel drugs for the treatment of cognitive impairment in schizophrenia. Despite these efforts, little progress has been made. The latest findings point to the importance of developing personalized treatments for schizophrenia which enhance neuroplasticity, and of combining pharmacological treatments with non-pharmacological measures.

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Association of DTNBP1 With Schizophrenia: Findings From Two Independent Samples of Han Chinese Population

Cited by 9 publications

References 40 publications

Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer’s disease-associated genes: DTNB and DLG2

Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer’s disease-associated genes: DTNB and DLG2

Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer’s disease-associated genes: DTNB and DLG2

Cognitive Deficit in Schizophrenia: From Etiology to Novel Treatments

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