Burden of stroke differs by region, which could be attributed to differences in comorbid conditions and ethnicity. Genomewide variation acts as a proxy marker for ethnicity, and comorbid conditions. We present an integrated approach to understand this variation by considering prevalence and mortality rates of stroke and its comorbid risk for 204 countries from 2009 to 2019, and Genome-wide association studies (GWAS) risk variant for all these conditions. Global and regional trend analysis of rates using linear regression, correlation, and proportion analysis, signifies ethnogeographic differences. Interestingly, the comorbid conditions that act as risk drivers for stroke differed by regions, with more of metabolic risk in America and Europe, in contrast to high systolic blood pressure in Asian and African regions. GWAS risk loci of stroke and its comorbid conditions indicate distinct population stratification for each of these conditions, signifying for population-specific risk. Unique and shared genetic risk variants for stroke, and its comorbid and followed up with ethnic-specific variation can help in determining regional risk drivers for stroke. Unique ethnic-specific risk variants and their distinct patterns of linkage disequilibrium further uncover the drivers for phenotypic variation. Therefore, identifying population- and comorbidity-specific risk variants might help in defining the threshold for risk, and aid in developing population-specific prevention strategies for stroke.
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http://dx.doi.org/10.7554/eLife.94088 | DOI Listing |
Acta Pharm
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Department of Clinical Pharmacy, University Hospital Dubrava, 10000 Zagreb Croatia.
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View Article and Find Full Text PDFHum Genet
January 2025
Department of Biomedical Sciences, University of Padova, Padova, Italy.
The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6). Eight research teams submitted a total of 30 models to predict phenotypes based on the sequences of 74 genes (VCF format) in 415 pediatric patients affected by Neurodevelopmental Disorders (NDDs). NDDs are clinically and genetically heterogeneous conditions, with onset in infant age.
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View Article and Find Full Text PDFInt J Cancer
January 2025
Department of Research and Development, Netherlands Comprehensive Cancer Organisation, Utrecht, The Netherlands.
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December 2025
Medical Specialities and Public Health Department, Area of Preventive Medicine and Public Health, Rey Juan Carlos University, Alcorcón, Madrid, Spain.
Pneumococcal disease is a leading cause of morbidity and mortality worldwide. From 2016 to 2022, 358,603 hospitalized patients were identified as having pneumococcal disease. The overall annual hospitalization rate was 108.
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