Gene set analysis is a powerful tool for interpreting a genome-wide association study result and is gaining popularity these days. Comparison of the gene sets obtained for a variety of traits measured from a single genetic epidemiology dataset may give insights into the biological mechanisms underlying these traits. Based on the previously published single nucleotide polymorphism (SNP) genotype data on 8,842 individuals enrolled in the Korea Association Resource project, we performed a series of systematic genome-wide association analyses for 49 quantitative traits of basic epidemiological, anthropometric, or blood chemistry parameters. Each analysis result was subjected to subsequent gene set analyses based on Gene Ontology (GO) terms using gene set analysis software, GSA-SNP, identifying a set of GO terms significantly associated to each trait (pcorr < 0.05). Pairwise comparison of the traits in terms of the semantic similarity in their GO sets revealed surprising cases where phenotypically uncorrelated traits showed high similarity in terms of biological pathways. For example, the pH level was related to 7 other traits that showed low phenotypic correlations with it. A literature survey implies that these traits may be regulated partly by common pathways that involve neuronal or nerve systems.
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http://dx.doi.org/10.5808/GI.2013.11.3.135 | DOI Listing |
Cardiovasc Diabetol
December 2024
Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, 1470 Madison Ave, s7-119, New York, NY, USA.
Background: Long-term consumption of Western Diet (WD) is a well-established risk factor for the development of cardiovascular disease (CVD); however, there is a paucity of studies on the long-term effects of WD on the pathophysiology of CVD and sex-specific responses.
Methods: Our study aimed to investigate the sex-specific pathophysiological changes in left ventricular (LV) function using transthoracic echocardiography (ECHO) and LV tissue transcriptomics in WD-fed C57BL/6 J mice for 125 days, starting at the age of 300 through 425 days.
Results: In female mice, consumption of the WD diet showed long-term effects on LV structure and possible development of HFpEF-like phenotype with compensatory cardiac structural changes later in life.
Biochem Pharmacol
December 2024
Department of Medical Laboratory Science and Biotechnology, Asia University, Taichung 41354, Taiwan; Graduate Institute of Biomedical Science, China Medical University, Taichung 40402, Taiwan; Department of Pharmacology, School of Medicine, China Medical University, Taichung 40402, Taiwan; Chinese Medicine Research Center, China Medical University, Taichung 40402, Taiwan; Department of Medical Research, China Medical University Hsinchu Hospital, Hsinchu 30205, Taiwan. Electronic address:
Chondrosarcoma is a type of bone cancer that originates from cartilage cells. In clinical practice, surgical resection is the primary treatment for chondrosarcoma, but chemotherapy becomes essential for patients with metastasis or tumors in surgically inaccessible sites. However, drug resistance often leads to treatment failure.
View Article and Find Full Text PDFExp Eye Res
December 2024
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031, China; Key laboratory of Myopia and Related Eye Diseases, NHC, Chinese Academy of Medical Sciences, 83 Fenyang Road, Shanghai, 200031, China; Shanghai Key Laboratory of Visual Impairment and Restoration, 83 Fenyang Road, Shanghai, 200031, China. Electronic address:
Choroid neovascularization (CNV) is a distinct type of age-related macular degeneration (AMD) with a poor prognosis and responsible for the majority of vision loss in the elderly population. The laser-induced CNV model is a well-established animal model frequently used to study CNV. In this study, we performed an integrated analysis of metabolomic and transcriptomic data from CNV samples, utilizing multiple approaches including single-sample gene set enrichment analysis (ssGSEA), correlation analysis, and weighted gene co-expression network analysis (WGCNA), alongside various bioinformatics platforms, to identify key metabolic and immune signatures and to investigate their interplay during angiogenesis.
View Article and Find Full Text PDFFish Shellfish Immunol
December 2024
Institute of Aquatic Biotechnology, College of Life Sciences, Qingdao University, Qingdao, 266071, China; Laboratory for Marine Fisheries Science and Food Production Processes, Qingdao Marine Science and Technology Center, Qingdao, Shandong 266237, China. Electronic address:
N6-methyladenosine (m6A) is the most prevalent RNA modification and a multifaceted regulator capable of affecting various aspects of mRNA metabolism, thereby playing important roles in numerous physiological processes. However, it is still unknown whether, when, and to what extent m6A modulation are implicated in the immune response of an economically important aquaculture fish, half-smooth tongue sole (Cynoglossus semilaevis). Herein, we systematically profiled and characterized the m6A epitranscriptome and transcriptome in C.
View Article and Find Full Text PDFBMC Pulm Med
December 2024
Department of Infectious Diseases, Fujian Shengli Medical College, Fujian Medical University, Fuzhou University Affiliated Provincial Hospital, Fuzhou, China.
Purpose: Available research indicates that the mammalian target of rapamycin complex 1 (mTORC1) signaling pathway is significantly correlated with lung cancer brain metastasis (BM). This study established a clinical predictive model for assessing the risk of BM based on the mTORC1-related single nucleotide polymorphisms (SNPs).
Methods: In this single-center retrospective study, 395 patients with non-small cell lung cancer were included.
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