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Long non-coding RNA (lncRNA) genes have well-established and important impacts on molecular and cellular functions. However, among the thousands of lncRNA genes, it is still a major challenge to identify the subset with disease or trait relevance. To systematically characterize these lncRNA genes, we used Genotype Tissue Expression (GTEx) project v8 genetic and multi-tissue transcriptomic data to profile the expression, genetic regulation, cellular contexts, and trait associations of 14,100 lncRNA genes across 49 tissues for 101 distinct complex genetic traits. Using these approaches, we identified 1,432 lncRNA gene-trait associations, 800 of which were not explained by stronger effects of neighboring protein-coding genes. This included associations between lncRNA quantitative trait loci and inflammatory bowel disease, type 1 and type 2 diabetes, and coronary artery disease, as well as rare variant associations to body mass index.
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http://dx.doi.org/10.1016/j.cell.2021.03.050 | DOI Listing |
Cell Mol Life Sci
September 2025
Department of Gastroenterology, The Second Hospital of Shandong University, Jinan, China.
Metabolic associated steatohepatitis (MASH) is a severe form of metabolic dysfunction-associated steatotic liver disease (MASLD) characterized by hepatocellular injury, inflammation, and fibrosis. Despite advances in understanding its pathophysiology, the molecular mechanisms driving MASH progression remain unclear. This study investigates the role of long non-coding RNA Linc01271 in MASLD/MASH pathogenesis, ant its involvement in the miR-149-3p/RAB35 axis and PI3K/AKT/mTOR signaling pathway.
View Article and Find Full Text PDFRecursive splice sites are rare motifs postulated to facilitate splicing across massive introns and shape isoform diversity, especially for long, brain-expressed genes. The necessity of this unique mechanism remains unsubstantiated, as does the role of recursive splicing (RS) in human disease. From analyses of rare copy number variants (CNVs) from almost one million individuals, we previously identified large, heterozygous deletions eliminating an RS site (RS1) in the first intron of that conferred substantial risk for attention deficit hyperactivity disorder (ADHD) and other neurobehavioral traits.
View Article and Find Full Text PDFRep Pract Oncol Radiother
August 2025
Department of Biosciences, Manipal University Jaipur, Dehmi Kalan, Jaipur, Rajasthan, India.
Long non-coding ribonucleic acids (lncRNAs) form a subclass of non-coding RNAs (ncRNAs), they are quite long and as their name non-coding suggests they do not have a role in protein coding. lncRNAs are vital in all the key steps of tumorigenesis, such as epithelial-mesenchymal transition, cancer stem cells formation, invasion, migration, and formation of the tumor vasculature. lncRNAs are classified into oncogenic or anti-tumor lncRNAs based on their functions.
View Article and Find Full Text PDFFront Pharmacol
August 2025
Stem Cell Research Center, Department of Pathology and Pathophysiology, School of Medicine, Tongji University, Shanghai, China.
Bladder cancer (BC) is a disease that predominantly affects older adults, with aging playing a critical role in its onset and progression. Age-associated phenomena, including immunosenescence and chronic inflammation, form a pro-tumor milieu, while genomic instability and epigenetic drift further increase cancer risk. The review highlights the dual role of DNA methylation in BC: global hypomethylation can activate transposable elements and oncogenes, whereas focal hypermethylation silences tumor-suppressor genes like CDKN2A, especially detrimental in older tissues that rely on these genes for senescence control.
View Article and Find Full Text PDFData Brief
October 2025
Department of Endocrinology, the First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China.
This dataset focuses on N6-Methyladenosine (m6A) RNA methylation in papillary thyroid carcinoma (PTC) without autoimmune thyroid disease (AITD). Emerging evidence suggests that m6A modification was associated with the occurrence and progression of both thyroid carcinoma and AITD. Given the substantial clinical overlap between thyroid carcinoma (particularly PTC) and AITD, rigorous exclusion of autoimmune confounding factors is essential to isolate the distinct role of m6A modifications in driving thyroid carcinogenesis and progression.
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