Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Vitiligo is an autoimmune disease involving loss of melanocytes. Although several genetic studies have confirmed that genetic factors play an important role, its pathogenesis remains incompletely characterized. In this study, a genome-wide meta-analysis was conducted to search for more susceptibility variants of vitiligo. Tang et al performed a GWAS for cohort I (1117 vitiligo cases and 1701 healthy controls) previously, and we conducted a GWAS for cohort II (3323 vitiligo cases and 7186 healthy controls) in this study, with the results subjected to a genome-wide meta-analysis and linkage disequilibrium analysis. We identify, to our knowledge, 11 previously unreported susceptibility variants, of which 6 variants are located in the intronic regions, and the remaining 5 variants are located within intergenic regions between genes. In addition, the results of polygenic risk score show that the best evaluated effect for target data is among significant SNVs of the base data. The susceptibility genes of vitiligo are mainly enriched in the immune-related functions and pathways. The susceptibility variants expand the role of genetic factors associated with vitiligo. The bioinformatics analysis for risk genes provides further insight into the pathogenesis of vitiligo.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jid.2024.01.010 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Epigenomic landscape of single vascular cells reflects developmental origin and disease risk loci.
Mol Syst Biol
September 2025
Department of Medicine, Division of Cardiovascular Medicine, Stanford University, Stanford, CA, USA.
Vascular sites have distinct susceptibility to atherosclerosis and aneurysm, yet the epigenomic and transcriptomic underpinning of vascular site-specific disease risk is largely unknown. Here, we performed single-cell chromatin accessibility (scATACseq) and gene expression profiling (scRNAseq) of mouse vascular tissue from three vascular sites. Through interrogation of epigenomic enhancers and gene regulatory networks, we discovered key regulatory enhancers to not only be cell type, but vascular site-specific.
View Article and Find Full Text PDFADGRB1 contributes to astrocyte-mediated phagocytosis of excitatory synapses.
Exp Neurol
September 2025
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. Electronic address:
Synapse refinement through the elimination of excess synapses is crucial for proper neuronal circuitry during development and adulthood, and the phagocytic activity of astrocytes plays an important role in this process. Failure to remove excess synapses can lead to neurological and neurodevelopmental disorders like epilepsy and autism spectrum disorder (ASD). The adhesion G protein-coupled receptor BAI1/ADGRB1 contributes to phagocytosis in various tissues, including the clearance of apoptotic myoblasts in skeletal muscle and epithelial cells in the intestine.
View Article and Find Full Text PDFMethylenetetrahydrofolate reductase (MTHFR) 677C>T rs1801133 genetic variant, homocysteine, folate, and vitamin B12 levels in patients with multiple sclerosis: a scoping review.
Mult Scler Relat Disord
August 2025
Clinical and Laboratory Pathophysiology Postgraduate Program, Health Sciences Center, State University of Londrina, Londrina, Paraná, Brazil; Health Sciences Postgraduate Program, Health Sciences Center, State University of Londrina, Londrina, Paraná, Brazil; Pontifical Catholic University of Para
Background: The MTHFR 677C>T rs1801133 genetic variant, homocysteine (Hcy), cyanocobalamin (vitamin B12), and folic acid (vitamin B9) are factors associated with the physiopathology of multiple sclerosis (MS). This scoping review discussed the relationship between MTHFR 677C>T rs1801133 variant, Hcy, vitamin B12, and folate levels with the susceptibility and pathophysiology of MS.
Methods: PubMed/US National Library of Medicine/USA database were used to search for cross-sectional, case-control, systematic reviews, and meta-analysis studies published in Portuguese and English, from 1990 to 2025.
Germline Findings From Tumor-Only Comprehensive Genomic Profiling in the RATIONAL Study: A Missed Opportunity?
JCO Precis Oncol
September 2025
Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, Napoli, Italy.
Purpose: Tumor comprehensive genomic profiling (CGP) may detect potential germline pathogenic/likely pathogenic (P/LP) alterations as secondary findings. We analyzed the frequency of potentially germline variants and large rearrangements (LRs) in the RATIONAL study, an Italian multicenter, observational clinical trial that collects next-generation sequencing-based tumor profiling data, and evaluated how these findings were managed by the enrolling centers.
Patients And Methods: Patients prospectively enrolled in the pathway-B of the RATIONAL study and undergoing CGP with the FoundationOne CDx assays were included in the analysis.
Epidemiological patterns of SARS-CoV-2 reinfections in Espírito Santo, Brazil: A population-based analysis using integrated surveillance and vaccination data.
PLoS One
September 2025
Instituto de Ensino e Pesquisa, Hospital Sírio-Libanês, São Paulo, São Paulo, Brazil.
Background: Reinfections with SARS-CoV-2 have gained increasing relevance in the context of emerging immune-evasive variants and waning population immunity. Understanding their frequency and distribution is essential to guide public health strategies, particularly in middle-income countries. This study investigates the epidemiological patterns of SARS-CoV-2 reinfections in Espírito Santo, Brazil, using integrated notification and vaccination databases.
View Article and Find Full Text PDF