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Identification of GTF2I Polymorphisms as Potential Biomarkers for CKD in the Han Chinese Population : Multicentric Collaborative Cross-Sectional Cohort Study.
Kidney360
October 2024
Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.
Article Synopsis
- Genetic factors, particularly two single-nucleotide polymorphisms (SNPs) in the GTF2I gene, are linked to a higher susceptibility to chronic kidney disease (CKD) in the Taiwanese population, affecting prevalence and onset age.
- Men with specific GTF2I genotypes (CT/TT and CT/CC) are at greater risk for developing CKD compared to women, especially with lower estimated glomerular filtration rates (eGFR).
- A study involving over 58,000 participants revealed that those with CKD also have a higher occurrence of metabolic, cardiovascular, autoimmune, and nephritic disorders, highlighting the importance of these genetic variants in kidney-related diseases.
ChIP-seq analysis found IL21R, a target gene of GTF2I-the susceptibility gene for primary biliary cholangitis in Chinese Han.
Hepatol Int
April 2024
Department of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 1 Shuaifuyuan Hutong, Dongcheng District, Beijing, 100730, China.
Aims: Aimed to identify a new susceptibility gene associated with primary biliary cholangitis (PBC) in Chinese Han and investigate the possible mechanism of that gene in PBC.
Methods: A total of 466 PBC and 694 healthy controls (HC) were included in our study, and genotyping GTF2I gene variants by Sequenom. CD19 + B cells were isolated for Chromatin immunoprecipitation sequencing (ChIP-seq).
Meta-Analysis and Systematic Review of the Association between a Hypoactive Variant and Various Autoimmune Diseases.
Antioxidants (Basel)
August 2022
Priority Area Chronic Lung Diseases, Research Center Borstel, Member of the German Center for Lung Research (DZL), 23845 Borstel, Germany.
Genetic association studies have discovered the intergenic region as a strong susceptibility locus for multiple autoimmune disorders, with the missense mutation rs201802880 as the causal polymorphism. In this work, we aimed to perform a comprehensive meta-analysis of the association of the locus with various autoimmune diseases and to provide a systemic review on potential mechanisms underlying the effect of the causal risk variants. The frequencies of the two most extensively investigated polymorphisms within the locus, rs117026326 and rs201802880, vary remarkably across the world, with the highest frequencies in East Asian populations.
View Article and Find Full Text PDFAssociation of GTF2I, NFKB1, and TYK2 Regional Polymorphisms With Systemic Sclerosis in a Chinese Han Population.
Front Immunol
September 2021
Department of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Objectives: Systemic sclerosis (SSc) is an uncommon autoimmune disease that varies with ethnicity. Single nucleotide polymorphisms (SNPs) in the GTFSI, NFKB1, and TYK2 genes have been reported to be associated with SSc in other populations and in individuals with various autoimmune diseases. This study aimed to investigate the association between these SNPs and susceptibility to SSc in a Chinese Han population.
View Article and Find Full Text PDFSjögren's syndrome-associated SNPs increase GTF2I expression in salivary gland cells to enhance inflammation development.
Int Immunol
July 2021
Division of Molecular Psychoimmunology, Institute for Genetic Medicine, Hokkaido University, Sapporo 0600815, Japan.
Sjögren's syndrome (SS) is an autoimmune disease characterized by inflammation with lymphoid infiltration and destruction of the salivary glands. Although many genome-wide association studies have revealed disease-associated risk alleles, the functions of the majority of these alleles are unclear. Here, we show previously unrecognized roles of GTF2I molecules by using two SS-associated single nucleotide polymorphisms (SNPs), rs73366469 and rs117026326 (GTF2I SNPs).
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