Tools for communicating risk for Parkinson's disease.
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ABSTRACT:
SUBMITTER: Cook L
PROVIDER: S-EPMC9709050 | biostudies-literature | 2022 Nov
REPOSITORIES: biostudies-literature
Publications
Tools for communicating risk for Parkinson's disease.
Cook Lola L Schulze Jeanine J Uhlmann Wendy R WR Verbrugge Jennifer J Marder Karen K Lee Annie J AJ Wang Yuanjia Y Alcalay Roy N RN Nance Martha M Beck James C JC
NPJ Parkinson's disease 20221129 1
Similar Datasets
Project description:This SuperSeries is composed of the SubSeries listed below.
2024-01-21 | GSE245524 | GEO
Project description:Parkinson's Disease Risk Enhancers in Microglia
| PRJNA1028658 | ENA
Project description:Genome-wide association studies (GWAS) have uncovered thousands of single nucleotide polymorphisms (SNPs) that are associated with Parkinson's disease (PD) risk. The functions of most of these SNPs, including the cell type they influence, and how they affect PD etiology remain largely unknown. To identify functional SNPs, we aligned PD risk SNPs within active regulatory regions of DNA in microglia, a cell type implicated in PD development. Out of 6,749 ‘SNPs of interest’ from the most recent PD GWAS metanalysis, 73 were located in open regulatory chromatin as determined by both ATAC-seq and H3K27ac ChIP-seq. We identified an active enhancer in microglia in intron two of SNCA that overlaps two PD risk SNPs, rs2737004 and rs2619356. In iPSC-derived microglia, CRISPR/Cas9 deletion of the open chromatin encompassing these SNPs caused reduced expression of multiple genes including SNCA and the adjacent gene MMRN1. Loss of the enhancer also led to upregulation of genes involved in glucose metabolism, a process that is known to be altered in PD patients. Our work expands the role of SNCA in Parkinson’s Disease and provides a connection between PD-associated genetic variants and underlying biology that points to a risk mechanism in microglia.
2024-01-21 | GSE245523 | GEO
Project description:Genome-wide association studies (GWAS) have uncovered thousands of single nucleotide polymorphisms (SNPs) that are associated with Parkinson's disease (PD) risk. The functions of most of these SNPs, including the cell type they influence, and how they affect PD etiology remain largely unknown. To identify functional SNPs, we aligned PD risk SNPs within active regulatory regions of DNA in microglia, a cell type implicated in PD development. Out of 6,749 ‘SNPs of interest’ from the most recent PD GWAS metanalysis, 73 were located in open regulatory chromatin as determined by both ATAC-seq and H3K27ac ChIP-seq. We identified an active enhancer in microglia in intron two of SNCA that overlaps two PD risk SNPs, rs2737004 and rs2619356. In iPSC-derived microglia, CRISPR/Cas9 deletion of the open chromatin encompassing these SNPs caused reduced expression of multiple genes including SNCA and the adjacent gene MMRN1. Loss of the enhancer also led to upregulation of genes involved in glucose metabolism, a process that is known to be altered in PD patients. Our work expands the role of SNCA in Parkinson’s Disease and provides a connection between PD-associated genetic variants and underlying biology that points to a risk mechanism in microglia.
2024-01-21 | GSE245522 | GEO
Project description:BackgroundCommunicating risk is a key component of shared decision-making and is vital for the management of advanced chronic kidney disease (CKD). Despite this, there is little evidence to suggest how best to communicate health risk information to people living with CKD. The aim of this review was to identify and understand the nature of evidence-based risk communication strategies for people living with CKD.MethodsWe searched MEDLINE, CINAHL and Scopus databases for articles which described or evaluated the use of risk communication strategies within the renal population. Similar risk communication strategies were collated and summarised narratively.ResultsA total of 3700 sources were retrieved from the search, of which 19 were included in the review. Eleven studies reported primary research, and eight reported either narrative or systematic reviews. Seven main risk communication strategies were identified: framing, absolute versus relative risk, natural frequencies versus percentages, personalised risk estimates, qualitative risk communication, best-case/worst-case framework and use of graphs and graphics. There was a paucity of risk communication strategies specific to the CKD population.ConclusionEvidence-based strategies to improve health risk communication for patients living with CKD are lacking. There is a need to establish the informational and communication preferences for patients living with CKD to better understand how to best communicate health risk information to individuals in this population.
| S-EPMC11903627 | biostudies-literature
Project description:To identify circRNAs associated with Parkinson's disease (PD) we leveraged two of the largest publicly available studies with longitudinal clinical and blood transcriptomic data. We performed a cross-sectional study utilizing the last visit of each participant (N = 1848), and a longitudinal analysis that included 1166 participants with at least two time points. We identified 192 differentially expressed circRNAs, with effects that were sustained during disease, in mutation carriers, and diverse ancestry. The 192 circRNAs were leveraged to distinguish between PD and healthy participants with a ROC AUC of 0.797. Further, 71 circRNAs were sufficient to distinguish between genetic PD (AUC71 = 0.954) and, at-risk participants (AUC71 = 0.929) and healthy controls, supporting that circRNAs have the potential to aid the diagnosis of PD. Finally, we identified five circRNAs highly correlated with symptom severity. Overall, we demonstrated that circRNAs play an important role in PD and can be clinically relevant to improve diagnostic and monitoring.
| S-EPMC11574145 | biostudies-literature
Project description:ObjectiveThis study assesses the attitudes and preferences of Chinese clinicians toward their involvement in shared decision making (SDM).MethodsFrom May 2014 to May 2015, 200 Chinese clinicians from two hospitals were enrolled to complete a survey on their attitude towards SDM. We conducted the survey via face-to-face interviews before and after an educational intervention on SDM among young Chinese clinicians. The clinicians were asked to give the extent of agreement to SDM. They also gave the extent of difficulty in using decision aids (DAs) during the SDM process. The variation in the range of responses to each question before and after the SDM intervention was recorded. The frequency of changed responses was analyzed by using JMP 6.0 software. Data were statistically analyzed using Chi-square and Mann-Whitney U tests, as appropriate to the data type. Multiple logistic regressions were used to test for those factors significantly and independently associated with preference for an approach for each scenario.ResultsOf the 200 young Chinese clinicians sampled, 59.0% indicated a preference for SDM and a desire to participate in SDM before receiving education or seeing the DA, and this number increased to 69.0% after seeing the DA with the sample video of the SDM process on Statin Choice. However, 28.5% of the respondents still reported that, in their current practice, they make clinical decisions on behalf of their patients. The clinicians who denied a desire to use the DA stated that the main barriers to implement SDM or DA use in China are lack of time and knowledge of SDM.ConclusionsMost young Chinese clinicians want to participate in SDM. However, they state the main barriers to perform SDM are lack of experience and time. The educational intervention about SDM that exposes clinicians to DAs was found to increase their receptivity.
| S-EPMC6656904 | biostudies-literature
Project description:BACKGROUND: The etiology of Parkinson's disease (PD) remains unclear, and environmental risk-factors such as occupation have attracted interest. OBJECTIVE: The goal was to investigate occupational complexity in relation to PD. METHODS: We conducted a population-based cohort study based on the Swedish Twin Registry that included 28,778 twins born between 1886 and 1950. We identified 433 PD cases during the study period. Data on occupation were collected from either the 1970 or 1980 Swedish census, and occupational complexity was assessed via a job exposure matrix. Cox proportional hazard regression analyses with age as the underlying time scale were used to assess PD risk as a function of the three domains of occupational complexity: data, people, and things. Sex and smoking were included as covariates. Analyses stratified by twin pair were conducted to test for confounding by familial factors. RESULTS: High occupational complexity with data and people was associated with increased risk overall (Hazard Ratio [HR] = 1.07, 95% confidence interval [CI] 1.02-1.14, and HR = 1.10, 95% CI 1.01-1.21, respectively), and in men (HR = 1.08, 95% CI 1.01-1.16, and HR = 1.15, 95% CI 1.03-1.28, respectively). Complexity with things was not associated with risk of PD. When the analyses were stratified by twin pair, the HRs for occupational complexity with data and people were attenuated in men. CONCLUSIONS: High complexity of work with data and people is related to increased risk of PD, particularly in men. The attenuation of risk observed in the twin pair-stratified analyses suggests that the association may partly be explained by familial factors, such as inherited traits contributing to occupational selection or other factors shared by twins.
| S-EPMC4157797 | biostudies-other
Project description:Parkinson's Disease Risk Enhancers in Microglia [ATAC-seq]
| PRJNA1028660 | ENA
Project description:Parkinson's Disease Risk Enhancers in Microglia [RNA-seq]
| PRJNA1028661 | ENA