Characterization of primary Sjögren's syndrome in the Taiwan Han population through a genome-wide association study and polygenic risk score analysis

Copyright © 2024. Published by Elsevier Inc.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 269(2024) vom: 20. Okt., Seite 110381
1. Verfasser: Liu, Ting-Yuan (VerfasserIn)
Weitere Verfasser: Lin, Min-Rou, Lu, Hsing-Fang, Chen, Yu-Chia, Lin, Hui-Ju, Chou, Wan-Hsuan, Wei, Chun-Yu, Palupi, Poppy Diah, Liao, Chi-Chou, Chang, Yen-Ting, Chang, Wei-Chiao, Tsai, Fuu-Jen
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2024
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Gene polymorphism Genome-wide association study (GWAS) Human leukocyte antigen (HLA) Phenome-wide association study (PheWAS) Polygenic risk score (PRS) Sjögren's syndrome
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245 1 0 |a Characterization of primary Sjögren's syndrome in the Taiwan Han population through a genome-wide association study and polygenic risk score analysis 
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520 |a BACKGROUND: Sjögren's syndrome (SS) is an autoimmune disorder that primarily affects the exocrine glands, leading to dryness of mucous membranes and systemic manifestations. This study aimed to identify genetic markers associated with primary SS (pSS) in the Taiwan Han population through a hospital-based genome-wide association study (GWAS) and polygenic risk score (PRS) analysis, addressing the lack of genetic research 
520 |a RESULTS: This study included 11,390 patients diagnosed with pSS and 113,900 controls. GWAS identified one known locus and eight novel loci. Known HLA alleles, including HLA-DRB1*15:01 and HLA-DQA1*03:01, were successfully replicated in a consistent effect direction. PRS analysis revealed that several autoimmune diseases share similar genetic backgrounds with pSS, including rheumatoid arthritis and systemic lupus erythematosus 
520 |a CONCLUSION: This study represents the largest cohort to date on the genetics of pSS in the Taiwan Han population. Our findings provide valuable insights into the pathogenesis of pSS and emphasize the comorbidities associated with it as an autoimmune disease 
650 4 |a Journal Article 
650 4 |a Gene polymorphism 
650 4 |a Genome-wide association study (GWAS) 
650 4 |a Human leukocyte antigen (HLA) 
650 4 |a Phenome-wide association study (PheWAS) 
650 4 |a Polygenic risk score (PRS) 
650 4 |a Sjögren's syndrome 
700 1 |a Lin, Min-Rou  |e verfasserin  |4 aut 
700 1 |a Lu, Hsing-Fang  |e verfasserin  |4 aut 
700 1 |a Chen, Yu-Chia  |e verfasserin  |4 aut 
700 1 |a Lin, Hui-Ju  |e verfasserin  |4 aut 
700 1 |a Chou, Wan-Hsuan  |e verfasserin  |4 aut 
700 1 |a Wei, Chun-Yu  |e verfasserin  |4 aut 
700 1 |a Palupi, Poppy Diah  |e verfasserin  |4 aut 
700 1 |a Liao, Chi-Chou  |e verfasserin  |4 aut 
700 1 |a Chang, Yen-Ting  |e verfasserin  |4 aut 
700 1 |a Chang, Wei-Chiao  |e verfasserin  |4 aut 
700 1 |a Tsai, Fuu-Jen  |e verfasserin  |4 aut 
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