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Genome-wide and phenome-wide studies provided insights into brain glymphatic system function and its clinical associations.
Sci Adv
January 2025
Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
We applied an MRI technique diffusion tensor imaging along the perivascular space (DTI-ALPS) for assessing glymphatic system (GS) in a genome-wide association study (GWAS) and phenome-wide association study (PheWAS) of 40,486 European individuals. Exploratory analysis revealed 17 genetic loci significantly associating with the regional DTI-ALPS index. We found 58 genes, including and , which prioritized in the DTI-ALPS index subtypes and associated with neurodegenerative diseases.
View Article and Find Full Text PDFIn-Depth Examination of TPBG as a New Predictive Indicator for Gastric Cancer.
J Cell Mol Med
January 2025
Department of Gastroenterology, The Affiliated Hospital of Hangzhou Normal University, Hangzhou, Zhejiang Province, China.
Trophoblast glycoprotein (TPBG) plays a significant part in the growth of specific cancers, yet its connection to gastric cancer (GC) remains uncertain. This research seeks to analyse the fluctuation in TPBG levels in GC and evaluate how TPBG expression relates to the prognosis of GC patients. TPBG expression in GC and normal gastric tissues was investigated in The Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression (GTEx) database, further extracting the immunohistochemistry images from HPA database and validating by Western blot.
View Article and Find Full Text PDFAssociation of -607C/A (rs1946518) and -137G/C (rs187238) polymorphisms and immune response in radiation-exposed workers.
Int J Radiat Biol
January 2025
Research Center for Radioisotope, Radiopharmaceutical, and Biodosimetry Technology, Research Organization for Nuclear Energy, National Research and Innovation Agency, Serpong, Indonesia.
Purpose: Interleukin-18, transforming growth factor-β, and superoxide dismutase are important cytokines and antioxidants in protecting the body from damage caused by radiation exposure through an immune response mechanism. Genetic polymorphisms -607 C/A and -137 G/C are thought to affect the IL-18 cytokine in carrying out its function as a biomarker to indicate adverse conditions due to radiation. The purposes of this study were to investigate the association between 607 C/A and -137 G/C SNPs on the concentrations of IL-18, and to measure TGF-β and SOD activity in radiation workers and control group.
View Article and Find Full Text PDFRisk-based triage strategy by extended HPV genotyping for women with ASC-US cytology.
Ann Med
December 2025
Department of Gynecologic Oncology, Women's Hospital, School of Medicine Zhejiang University, Hangzhou, China.
Objective: We attempted to evaluate the immediate high-grade squamous intraepithelial lesion-cervical intraepithelial neoplasia grade 2/3 or worse (HSIL-CIN2+/3+, hereafter referred to as CIN2+/3+) risk of specific human papillomavirus (HPV) genotype and form the precise risk-based triage strategy for atypical squamous cells of undetermined significance (ASC-US) women.
Methods: The clinical data of ASC-US women who underwent HPV genotyping testing and colposcopy were retrospectively reviewed. The distribution and CIN2+/3+ risks of specific HPV genotype were assessed by three approaches.
Genome-wide association study on color-image-based convolutional neural networks.
PeerJ
January 2025
School of Mathematics and Computer Science, Gannan Normal University, Ganzhou, China.
Background: Convolutional neural networks have excellent modeling abilities to complex large-scale datasets and have been applied to genomics. It requires converting genotype data to image format when employing convolutional neural networks to genome-wide association studies. Existing studies converting the data into grayscale images have shown promising.
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