Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Genome wide association studies (GWAS) have been widely used to investigate the association of genetic markers with complex traits in both humans and livestock species. A particular trait of interest, when studying animal robustness and general immunocompetence, is the transcriptomic profile of blood. To identify genetic variants affecting gene expression in pig blood, we performed expression GWAS (eGWAS) in 255 animals from a commercial Duroc population between 8,499,177 imputed single nucleotide polymorphisms (SNPs) and the expression levels of 14,642 genes obtained from RNA sequencing. Out of the nearly 125 million associations tested, 23 million were found to be significant, grouped in 9,930 expression quantitative trait loci (eQTLs) associated to the expression levels of 6,051 genes. Over 36% of detected eQTLs mapped in close proximity to the genomic location of their associated gene and were classified as eQTLs. Moreover, 430,694 variants were found to be associated with the expression of 10 or more different genes and were annotated as transcriptional hotspots. Among genes regulated by these hotspots, we identified genes that encode transcription factors and co-factors regulating immune responses, such as , or co-expressed genes related to immunity (, , , and ) and associated with health traits, such as phagocytic activity or haptoglobin concentration. In addition, several of the regulating variants for immunity candidate genes overlapped with previously described immunity QTLs. Colocalization studies revealed putative common causal variants between the proportion of memory and helper T cells and the candidate genes , , , and . In conclusion, the associations identified in this study enable the characterization of transcriptional regulators of the pig blood transcriptome. Moreover, the colocalization between immunity QTLs and eQTLs has revealed potential causative mutations regulating immunocompetence in pigs. All these data and results contribute to shedding light on the regulatory mechanisms of blood gene expression and porcine immune regulation.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12177557 | PMC |
| http://dx.doi.org/10.3389/fimmu.2025.1582982 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Complement Factor I Deficiency With Acute Hemorrhagic Leukoencephalitis and Longitudinally Extensive Transverse Myelitis: A Case Report.
Neurol Neuroimmunol Neuroinflamm
November 2025
Department of Neurology, UC Davis Medical Center, Sacramento, CA.
Objectives: Complement factor I (CFI) deficiency is a rare condition that can present with fulminant relapsing CNS autoinflammation. In this report, we highlight the utility of genetic testing in unexplained CNS autoinflammation.
Methods: This case report describes a young adult with partial CFI deficiency, presenting with acute hemorrhagic leukoencephalitis and longitudinally extensive transverse myelitis.
CD8HLA-DRCD27 T cells define a population of naturally occurring regulatory precursors in humans.
Sci Adv
September 2025
Peking University People's Hospital, Peking University Institute of Hematology, National Clinical Research Center for Hematologic Disease, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Peking University, Beijing, China.
Regulatory T cells are essential for immune homeostasis. While CD4 T cells are well characterized, CD8 T cells remain less understood and are primarily observed in pathological or experimental contexts. Here, we identify a naturally occurring CD8 regulatory precursor T cell at the steady state, defined by a CD8HLA-DRCD27 phenotype and a transcriptome resembling CD4 T cells.
View Article and Find Full Text PDFInterferon-induced senescent CD8 T cells reduce anti-PD1 immunotherapy efficacy in early triple-negative breast cancer.
Sci Transl Med
September 2025
Key Laboratory of Breast Cancer in Shanghai, Department of Breast Surgery, Precision Cancer Medicine Center, Fudan University Shanghai Cancer Center, Shanghai 200032, P. R. China.
Triple-negative breast cancers (TNBCs) lack predictive biomarkers to guide immunotherapy, especially during early-stage disease. To address this issue, we used single-cell RNA sequencing, bulk transcriptomics, and pathology assays on samples from 171 patients with early-stage TNBC receiving chemotherapy with or without immunotherapy. Our investigation identified an enriched subset of interferon (IFN)-induced CD8 T cells in early TNBC samples, which predict immunotherapy nonresponsiveness.
View Article and Find Full Text PDFType I interferon limits central nervous system autoimmunity by modulating the microRNA-21-FOXO1 axis in pathogenic T helper 17 cells.
Sci Transl Med
September 2025
Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
IFN-β, a type I interferon, has been used as a first-line therapy for patients with multiple sclerosis (MS) for more than 30 years; however, the cellular and molecular basis of its therapeutic efficacy remains unclear. Here, we first used experimental autoimmune encephalomyelitis (EAE), a mouse model for MS, to show that the therapeutic effects of IFN-β were associated with a down-regulation of microRNA-21 (miR-21) and pathogenic T17 (pT17) cells. In vitro experiments demonstrated that genetic knockout of miR-21 directly inhibited pathogenic T17 cell differentiation.
View Article and Find Full Text PDFReplication stress-induced nuclear hypertrophy alters chromatin topology and impacts cancer cell fitness.
Proc Natl Acad Sci U S A
September 2025
Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon 34051, Republic of Korea.
Microscopic examination of biopsy tissues remains essential for cancer diagnosis, despite advancements in sequencing technologies. Alterations in nuclear size or the nuclear-to-cytoplasmic ratio are hallmark features of cancer cells and often correlate with disease progression. However, the mechanisms underlying nuclear size abnormalities and their impact on tumor progression remain unclear.
View Article and Find Full Text PDF