27 research outputs found

    Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)

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    \ua9 2023, Springer Nature Limited. The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

    Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease

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    \ua9 2023, This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply. Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations

    Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

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    National identity predicts public health support during a global pandemic

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    Understanding collective behaviour is an important aspect of managing the pandemic response. Here the authors show in a large global study that participants that reported identifying more strongly with their nation reported greater engagement in public health behaviours and support for public health policies in the context of the pandemic.Changing collective behaviour and supporting non-pharmaceutical interventions is an important component in mitigating virus transmission during a pandemic. In a large international collaboration (Study 1, N = 49,968 across 67 countries), we investigated self-reported factors associated with public health behaviours (e.g., spatial distancing and stricter hygiene) and endorsed public policy interventions (e.g., closing bars and restaurants) during the early stage of the COVID-19 pandemic (April-May 2020). Respondents who reported identifying more strongly with their nation consistently reported greater engagement in public health behaviours and support for public health policies. Results were similar for representative and non-representative national samples. Study 2 (N = 42 countries) conceptually replicated the central finding using aggregate indices of national identity (obtained using the World Values Survey) and a measure of actual behaviour change during the pandemic (obtained from Google mobility reports). Higher levels of national identification prior to the pandemic predicted lower mobility during the early stage of the pandemic (r = -0.40). We discuss the potential implications of links between national identity, leadership, and public health for managing COVID-19 and future pandemics

    Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)

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    Correction to: s41531-023-00526-9 npj Parkinson’s Disease, published online 27 June 2023 In this article the Global Parkinson’s Genetics Program (GP2) members names and affiliations were missing in the main author list of the Original article which are listed in the below

    Extraction and evaluation of natural occurring bioactive compounds and change in antioxidant activity during red winemaking

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    Phenolic composition of red wines from Stanušina, a grape variety indigenous of the Republic of Macedonia, was compared with the regional Vranec and the international Cabernet Sauvignon. The extent of skin contact (i.e. maceration time) on levels of phenolic compounds and antioxidant activity of wines was evaluated. A total of 19 phenolic compounds were identified and quantified. Among these malvidin-3-glucoside and its derivatives were the major compounds, while caftaric acid was the predominant cinnamic acid derivative, followed by catechin, the main flavan-3-ol. The concentration of hydroxycinnamic acids, anthocyanins and (+)-catechin ranged from 224 to 511 mg/L, 22 to 360 mg/L and 26 20 to 375 mg/L, respectively and peaked at 3rd, 6th and 9th day of maceration, respectively. However, prolong maceration slightly decreased their concentration. Stanušina wines presented high levels of hydroxycinnamic acids and antioxidant activity

    Comparison of the classification ratios of four depression rating scales commonly used in Turkey

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    Objective: According to literature more than 20 depression scales are in use in Turkey. Considering that depression is a popular area of study, it may not seem abnormally unusual that there are so many measuring scales available. However, so many measuring instruments may lead to a problem of different sensitivity levels and raise the question of whether or not all the instruments have the same sensitivity in measuring the particular entity. The purpose of this study is to compare the four commonly used self-report scales adapted into Turkish, namely CES-Depression Scale, Beck Depression Inventory, the Zung Self-Rating Depression Scale, and the Hospital Anxiety and Depression Scale (depression subscale) by cross-validation. Method: These depression scales had been applied to three hundred and forty-one subjects and total scores of the subjects for each scale have been obtained. Next, the sample group was divided into two according to group averages of total scale scores. Normative scores and cut-off scores have not been considered because the study objective was to compare these scales on a theoretical basis. The groups below and above average for each of the four scales have been compared by the ROC curve analyzes. Results: The results showed that the total score of Beck Depression Inventory had been grouped correctly by the Zung Self-Rating Depression Scale at a ratio of 0.871, the Hospital Anxiety and Depression Scale (depression subscale) at a ratio of 0.885, and by CES-Depression Scale at a ratio of 0.874. The total score of CES-Depression Scale had been correctly grouped by Beck Depression Inventory at a ratio of 0.871, the Zung Self-Rating Depression Scale at a ratio of 0.869, and by the Hospital Anxiety and Depression Scale (depression subscale) at a ratio of 0.862. The total score of the Zung Self-Rating Depression Scale has been correctly grouped by the Hospital Anxiety and Depression Scale depression subscale at a ratio of 0.848, Beck Depression Inventory at a ratio of 0.872, and by CES-Depression Scale at a ratio of 0.878. The total score of the Hospital Anxiety and Depression Scale (depression subscale) has been correctly grouped by the Zung Self-Rating Depression Scale at a ratio of 0.848, Beck Depression Inventory at a ratio of 0.889, and by CES-Depression Scale at a ratio of 0.887. Conclusion: The overall results showed that the scales cross-validated with ratios ranging from 0.85 to 0.89. The classifying ratios obtained by ROC analysis were similar across four depression scales
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