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A cross-tissue transcriptome-wide association study identifies new susceptibility genes for benign prostatic hyperplasia.
Sci Rep
January 2025
Department of Urology, The Second Hospital & Clinical Medical School, Lanzhou University, Lanzhou, 730030, People's Republic of China.
Benign prostatic hyperplasia (BPH) is a prevalent urinary system disorder. Despite evidence of a significant genetic component from previous studies, the specific pathogenic genes and biological mechanisms are still largely unknown. The study utilized the FinnGen R10 dataset, encompassing 177,901 individuals (36,601 cases and 141,300 controls), and the GTEx v8 EQTLs files to conduct single-tissue and cross-tissue transcriptome-wide association studies (TWAS).
View Article and Find Full Text PDFAdvances in the genetics of myasthenia gravis: insights from cutting-edge neuroscience research.
Front Med (Lausanne)
January 2025
Ganzhou City People's Hospital, Ganzhou, Jiangxi, China.
Myasthenia gravis (MG) is an autoimmune disorder involving complex interactions between genetic and environmental factors. Genome-wide association studies (GWAS), transcriptome-wide association studies (TWAS), and other methods have identified multiple novel susceptibility loci and genes, providing crucial insights into the genetic etiology of MG. Moreover, the pivotal roles of epigenetic mechanisms, such as DNA methylation, histone modifications, and non-coding RNAs, in the pathogenesis of MG are gradually being unveiled.
View Article and Find Full Text PDFWhole Transcriptome-Wide Analysis Combined with Summarydata-Based Mendelian Randomization Identifies High-Riskgenes for Cholelithiasis Incidence.
Clin Transl Gastroenterol
January 2025
Key Laboratory of Hepatosplenic Surgery, Ministry of Education, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang province, China.
Background: Cholelithiasis is influenced by various factors, including genetic elements identified in genome-wide association studies (GWAS), but their biological functions are not fully understood.
Methods: Analyzing data from the Finngen database with 37,041 cholelithiasis cases and 330,903 controls, this study combined SNP data from GTEx v8 and linkage disequilibrium data from the 1000 Genomes Project. Using the TWAS FUSION protocol and SMR analysis, it investigated the relationship between gene expression and cholelithiasis, employing colocalization tests and conditional analyses to explore causality.
Transferability of Single- and Cross-Tissue Transcriptome Imputation Models Across Ancestry Groups.
Genet Epidemiol
January 2025
Centre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, Division of Musculoskeletal and Dermatological Sciences, The University of Manchester, Manchester, UK.
Transcriptome-wide association studies (TWAS) investigate the links between genetically regulated gene expression and complex traits. TWAS involves imputing gene expression using expression quantitative trait loci (eQTL) as predictors and testing the association between the imputed expression and the trait. The effectiveness of TWAS depends on the accuracy of these imputation models, which require genotype and gene expression data from the same samples.
View Article and Find Full Text PDFMapping snoRNA Targets Transcriptome-Wide with snoKARR-seq.
ACS Chem Biol
January 2025
Department of Chemistry, The University of Chicago, Chicago, Illinois 60637, United States.
Small nucleolar RNAs (snoRNAs) are noncoding RNAs primarily known for guiding chemical modifications of RNA, but their broader cellular roles and contributions to human diseases remain elusive. This In Focus article introduces the development of snoRNA-enriched kethoxal-assisted RNA-RNA sequencing (snoKARR-seq), a transcriptome-wide approach to uncover snoRNA targets with enhanced sensitivity and specificity. This method revealed an unexpected role for snoRNAs in protein translocation and secretion, expanding our understanding of their noncanonical functions.
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