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Oligogenic risk score for Gilles de la Tourette syndrome reveals a genetic continuum of tic disorders.
J Appl Genet
January 2025
Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, Pawińskiego 5, 02-106, Warsaw, Poland.
Gilles de la Tourette syndrome (GTS) and other tic disorders (TDs) have a substantial genetic component with their heritability estimated at between 60 and 80%. Here we propose an oligogenic risk score of TDs using whole-genome sequencing (WGS) data from a group of Polish GTS patients, their families, and control samples (n = 278). In this study, we first reviewed the literature to obtain a preliminary list of 84 GTS/TD candidate genes.
View Article and Find Full Text PDFCase Studies on Dissocial Personality-Bad or Ill?
Healthcare (Basel)
December 2024
Department of Clinical Pharmacology, Medical University of Lodz, 90-153 Lodz, Poland.
Dissocial personality is understood as a personality that does not ideologize most social norms and is characterized by a lack of empathy. Precise criteria for diagnosing dissocial personality are included in the ICD-10 classification, which is still in force in Poland. This classification is widely available in both Polish and English.
View Article and Find Full Text PDFIntroduction: The Big Five Inventory (BFI) is a popular measure that evaluates personality on the Big-Five model. Apart from its utilization across cultures, the literature did not reveal any meta-analysis for the reliability of the different versions of the BFI and its translations. The current study carried out a reliability generalization meta-analysis (REGEMA) to establish the reliability of the BFI across cultures and languages.
View Article and Find Full Text PDFA genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia.
Hum Genet
January 2025
Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Refractive error (RE) and myopia are complex polygenic conditions with the majority of genome-wide associated genetic variants in non-exonic regions. Given this, and the onset during childhood, gene-regulation is expected to play an important role in its pathogenesis. This prompted us to explore beyond traditional gene finding approaches.
View Article and Find Full Text PDF[Pharmacogenomics in the treatment of mental disorders].
Postepy Biochem
December 2024
Faculty of Biology, University of Warsaw, Poland.
Pharmacogenomics lies at the intersection of pharmacology and genomics. It analyzes the impact of genetic variants on patient’s response to a specific drug. Pharmacogenomic tests involve the analysis of variants of genes responsible for drug metabolism, to determine the rate of drug metabolism and apply this information to clinical practice.
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