Publications by authors named "Xiaojing Gu"

Large case-control genome-wide association studies (GWASs) have detected loci associated with insomnia, but how these risk loci confer disease risk remains largely unknown. By integrating brain protein quantitative trait loci (pQTL) (N = 376, N = 152) and expression QTL (eQTL) (N = 452) datasets, with the latest insomnia GWAS summary statistics (N = 109,548, N = 277440), we conducted proteome/transcriptome-wide association study (PWAS/TWAS) and Mendelian randomization (MR) analysis, aiming to identify causal proteins involving in the pathogenesis of insomnia. We also explored the bi-directional causality between insomnia and several common diseases.

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  • The study investigates the "split-elbow sign" (SES) in amyotrophic lateral sclerosis (ALS), focusing on its potential as a diagnostic tool by examining the split-elbow index (SEI) derived from various muscle measurements.
  • A cohort of 70 ALS patients, 41 disease controls, and 40 healthy individuals was analyzed, revealing significant differences in SEI values between groups and a decrease in SEI as the disease progresses.
  • Results indicate that SES could serve as an important clinical feature and biomarker for diagnosing ALS and tracking its progression, with a strong diagnostic performance observed in the ROC analysis.
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Objective: Explore the application effects of "Internet +" continuous emotional management training in depression patients and analyze the feasibility of innovative rehabilitation training methods.

Methods: Conveniently selected 100 discharged patients meeting the diagnostic criteria for depression from the Second Affiliated Hospital of Xinxiang Medical University between August 2022 and January 2023 as study subjects. They were divided into an intervention group and a control group according to their discharge time, with 50 patients in each group.

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Current research lacks comprehensive investigations into the potential causal link between mitochondrial-related genes and the risk of neurodegenerative diseases (NDDs). We aimed to identify potential causative genes for five NDDs through an examination of mitochondrial-related gene expression levels. Through the integration of summary statistics from expression quantitative trait loci (eQTL) datasets (human blood and brain tissue), mitochondrial DNA copy number (mtDNA-CN), and genome-wide association studies (GWAS) datasets of five NDDs from European ancestry, we conducted a Mendelian randomization (MR) analysis to explore the potential causal relationship between mitochondrial-related genes and Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and Lewy body dementia (LBD).

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Background: Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease characterized by multi-organ multi-system inflammation, causing severe damage to various organs or systems. Recent studies have shown that miR-155 can affect the progression of Lupus Nephritis via regulating TNF-a. The present study aims to explore the roles of MIR155HG and TNF-a in the evaluation of prognosis of patients with SLE, so as to provide a basis for clinical work.

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Background: Recent genetic evidence supports that circulating biochemical and metabolic traits (BMTs) play a causal role in Alzheimer's disease (AD), which might be mediated by changes in brain structure. Here, we leveraged publicly available genome-wide association study data to investigate the intrinsic causal relationship between blood BMTs, brain image-derived phenotypes (IDPs) and AD.

Methods: Utilizing the genetic variants associated with 760 blood BMTs and 172 brain IDPs as the exposure and the latest AD summary statistics as the outcome, we analyzed the causal relationship between blood BMTs and brain IDPs and AD by using a two-sample Mendelian randomization (MR) method.

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  • There are currently no effective drugs for treating sarcopenia, so researchers are looking for potential new therapeutic targets by analyzing various public datasets.
  • Using methods like Mendelian Randomization, the study assessed the causal relationships between drug target genes and sarcopenia, identifying 17 druggable genes linked to the condition.
  • Six genes were confirmed with strong causal associations, and further analysis showed that certain gene expressions can positively influence muscle mass and strength, while other expressions may indicate a higher risk of sarcopenia.
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Extensive research has documented bully victimization as a pivotal risk factor contributing to aggressive behaviors among adolescents. Particularly, the negative outcome of increased aggressive behaviors may be exacerbated when the aggressive actions are novel and difficult to detect. The present study aims to explore the complex relationships between cyberbullying and school bullying victimization and malevolent creativity and the potential mediating role of hostile attribution using two-wave longitudinal data.

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Novel CHCHD2 mutations causing C-terminal truncation and interrupted CHCHD2 protein stability in Parkinson's disease (PD) patients were previously found. However, there is limited understanding of the underlying mechanism and impact of subsequent CHCHD2 loss-of-function on PD pathogenesis. The current study further identified the crucial motif (aa125-133) responsible for diminished CHCHD2 expression and the molecular interplay within the C1QBP/CHCHD2/CHCHD10 complex to regulate mitochondrial functions.

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  • Drug repurposing is being explored as a viable and quick strategy to address the lack of effective ALS treatments, focusing on genes associated with the disease.
  • Mendelian randomization analysis identified several druggable genes linked to ALS in both blood and brain, including TBK1 and TNFSF12, leading to the discovery of five potential repurposed drugs.
  • Further tests showed that the prioritized drugs, fostamatinib (R788) and amlexanox (AMX), can reduce neuroinflammation in ALS cell models, confirming their therapeutic promise.
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Gummy stem blight (GSB), a widespread disease causing great loss to cucurbit production, has become a major threat to melon cultivation. However, the melon-GSB interaction remains largely unknown. Here, full-length transcriptome and widely targeted metabolome were used to investigate the defence responses of resistant (PI511089) and susceptible (Payzawat) melon accessions to GSB pathogen infection at 24 h.

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Observational studies have faced challenges in identifying replicable causes for amyotrophic lateral sclerosis (ALS). To address this, we employed an unbiased and data-driven approach to discover and explore potential causal exposures using two-sample Mendelian randomization (MR) analyses. In the phenotype discovery stage, we assessed 3948 environmental exposures from the UK Biobank and utilized ALS summary statistics (Europeans, 20,806 cases, 59,804 controls) as the outcome within a phenome-wide MR pipeline.

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Purpose: This meta-analysis assessed whether atypical antipsychotics (AAPs) and esketamine nasal spray (ESK-NS), which are mechanistically distinct, differ in antidepressant outcomes.

Patients And Methods: Data were extracted from 12 trials of ESK-NS or AAPs in depressed patients (4276) with inadequate response or resistance to conventional antidepressants. Montgomery-Åsberg Depression Rating Scale (MADRS) score reductions from baseline and response rates (≥50% reduction) were analyzed.

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  • Genome-wide association studies (GWASs) have identified many genetic loci linked to Parkinson's disease (PD), but potential causal genes and effective therapies are still lacking.
  • Researchers integrated various datasets to apply several analytical methods, ultimately identifying GPNMB as a significant causal gene and CD38 as a protective factor in PD.
  • Other proteins were also associated with PD risk, but further research is needed to clarify their roles; these findings could guide future drug development for PD.
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Background And Aim: Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG repeats expansion. Cognitive decline contributes to the loss of daily activity in manifest HD. We aimed to examine the cognition status in a Chinese HD cohort and explore factors influencing the diverse cognitive domains.

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Colon adenocarcinoma (COAD) is a common malignant tumor, and the role of the protein PFKFB4 in glycolysis and pentose phosphate pathways is crucial. Researchers investigated the clinical significance of PFKFB4 in COAD by studying its expression in 79 tissue samples using immunohistochemistry. We found that PFKFB4 expression was significantly higher in COAD patients, particularly in the sigmoid colon.

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  • Alzheimer's disease (AD) is a major cause of dementia with no effective treatments, prompting the use of Mendelian randomisation to find new therapeutic targets.
  • A study identified 33 potential druggable genes linked to AD, with five validated across different datasets and three showing significant relevance in both blood and brain tissues.
  • The research highlights EPHX2 as a key player in AD pathogenesis and suggests that targeting these genes can be beneficial for developing new treatments without significant side effects.
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Background: The etiology of amyotrophic lateral sclerosis (ALS) remains largely unknown. This study aimed to summarize the relationship between ALS and its genetic and non-genetic risk factors.

Method: A search of relevant literature from PubMed, Embase, and Cochrane Database from inception to December 2022 was performed.

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Background: Genome-Wide Association Studies (GWAS) have identified numerous risk genes for Amyotrophic Lateral Sclerosis (ALS); however, the mechanisms by which these loci confer ALS risk are uncertain. This study aims to identify novel causal proteins in the brains of patients with ALS using an integrative analytical pipeline.

Methods: Using the datasets of Protein Quantitative Trait Loci (pQTL) (N = 376, N = 152), expression QTL (eQTL) (N = 452), and the largest ALS GWAS (N27,205, N = 110,881), we performed a systematic analytical pipeline including Proteome-Wide Association Study (PWAS), Mendelian Randomization (MR), Bayesian colocalization, and Transcriptome-Wide Association Study (TWAS) to identify novel causal proteins for ALS in the brain.

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Evidence from observational studies concerning the causal role of blood pressure (BP) and antihypertensive medications (AHM) on Parkinson's disease (PD) remains inconclusive. A two-sample Mendelian randomization (MR) study was performed to evaluate the unconfounded association of genetic proxies for BP and first-line AHMs with PD. Instrumental variables (IV) from the genome-wide association study (GWAS) for BP traits were used to proxy systolic BP (SBP), diastolic BP, and pulse pressure.

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Background: Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disorder (NDS) with unclear pathophysiology and few therapeutic options. Mutations in and are the most common in Asian and Caucasian patients with ALS, respectively. Aberrant (microRNAs) miRNAs found in patients with gene-mutated ALS may be involved in the pathogenesis of gene-specific ALS and sporadic ALS (SALS).

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Enduring loneliness is associated with mental disorders and physical diseases. Although genome-wide association studies (GWAS) have identified risk loci associated with loneliness, how these loci confer the risk remains largely unknown. In the current study, we aimed to investigate key proteins underlying loneliness in the brain by integrating human brain proteomes and transcriptomes with loneliness GWAS to perform a discovery proteome-wide association study (PWAS), followed by a confirmatory PWAS, transcriptome-wide association analysis (TWAS), Mendelian randomization (MR), Steigering filtering analysis and Bayesian colocalization analysis.

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Objective: The predictive factors for wheelchair dependence in patients with multiple system atrophy (MSA) are unclear. We aimed to explore the predictive factors for early-wheelchair dependence in patients with MSA focusing on clinical features and blood biomarkers.

Methods: This is a prospective cohort study.

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