Publications by authors named "Qing-Qing Duan"
Article Synopsis
- 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.
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).
View Article and Find Full Text PDFBackground: 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.
Article Synopsis
- 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.
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.
View Article and Find Full Text PDFExpanding causal genes for Parkinson's disease via multi-omics analysis.
NPJ Parkinsons Dis
October 2023
Article Synopsis
- 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.
Systematic druggable genome-wide Mendelian randomisation identifies therapeutic targets for Alzheimer's disease.
J Neurol Neurosurg Psychiatry
November 2023
Article Synopsis
- 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.
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.
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.
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.
View Article and Find Full Text PDFCHCHD2 mutations have been reported to cause Parkinson's disease (PD) by a loss of function in mitochondria. Most reported mutations, however, were missense, which was not the perfect model for a study of haploinsufficiency. Here, a truncated mutation, CHCHD2 p.
View Article and Find Full Text PDFArticle Synopsis
- The study aims to investigate how genetic factors influence survival rates in patients with amyotrophic lateral sclerosis (ALS), an area that hasn't been thoroughly researched.
- A systematic review and meta-analysis of 71 eligible studies were conducted, focusing on both causative genes and genetic modifiers related to ALS survival.
- Results indicated that variants in genes like ATXN2, C9orf72, and FUS were linked to shorter survival, while other genes did not show a significant impact, providing insights that could help guide future ALS research and treatment strategies.
Background: The survival time of amyotrophic lateral sclerosis (ALS) is greatly variable and protective or risk effects of the potential survival predictors are controversial. Thus, we aim to undertake a comprehensive meta-analysis of studies investigating non-genetic prognostic and survival factors in patients with ALS.
Methods: A search of relevant literature from PubMed, Embase, Cochrane library and other citations from 1 January 1966 to 1 December 020 was conducted.
Background: Little is known about the impacts of schizophrenia on different types of caregiving burden.
Aim: This study aims to examine how the severity of schizophrenia, social functioning and aggressive behavior are associated with caregiving burden across different kinship types.
Method: The analytic sample included 300 dyads of persons with schizophrenia and their family caregivers in Xinjin, Chengdu, China.