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Genetic Association and Expression Correlation between Colony-Stimulating Factor 1 Gene Encoding M-CSF and Adult-Onset Still’s Disease
Joint Authors
Lee, Yun-Shien
Chen, Yi-Ming
Hung, Wei-Ting
Chang, Wan-Chun
Hsieh, Chia-Wei
Chung, Wen-Hung
Lan, Joung-Liang
Gung, Ning-Rong
Chen, Der-Yuan
Hung, Shuen-Iu
Source
Journal of Immunology Research
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-02-14
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
Adult-onset Still’s disease (AOSD) is a rare and inflammatory disorder characterized by spiking fever, rash, arthritis, and multisystemic involvement.
HLA has been shown to be associated with AOSD; however, it could not explain the innate immunity and autoinflammatory characteristics of AOSD.
To assess the genetic susceptibility of AOSD, we conducted a genome-wide association study (GWAS) on a cohort of 70 AOSD cases and 688 controls following a replication study of 36 cases and 200 controls and meta-analysis.
The plasma concentrations of associated gene product were determined.
The GWAS, replication, and combined sample analysis confirmed that SNP rs11102024 on 5′-upstream of CSF1 encoding macrophage colony-stimulating factor (M-CSF) was associated with AOSD (P=1.20×10-8, OR (95% CI): 3.28 (2.25~4.79)).
Plasma levels of M-CSF increased in AOSD patients (n=82, median: 9.31 pg/mL), particularly in the cases with activity score≥6 (n=42, 10.94 pg/mL), compared to the healthy donors (n=68, 5.31 pg/mL) (P<0.0001).
Patients carrying rs11102024TT genotype had higher M-CSF levels (median: 20.28 pg/mL) than those with AA genotype (6.82 pg/mL) (P<0.0001) or AT genotype (11.61 pg/mL) (P=0.027).
Patients with systemic pattern outcome were associated with elevated M-CSF and frequently observed in TT carriers.
Our data suggest that genetic variants near CSF1 are associated with AOSD and the rs11102024 T allele links to higher M-CSF levels and systemic outcome.
These results provide a promising initiative for the early intervention and therapeutic target of AOSD.
Further investigation is needed to have better understandings and the clinical implementation of genetic variants nearby CSF1 in AOSD.
American Psychological Association (APA)
Chen, Yi-Ming& Hung, Wei-Ting& Chang, Wan-Chun& Hsieh, Chia-Wei& Chung, Wen-Hung& Lan, Joung-Liang…[et al.]. 2020. Genetic Association and Expression Correlation between Colony-Stimulating Factor 1 Gene Encoding M-CSF and Adult-Onset Still’s Disease. Journal of Immunology Research،Vol. 2020, no. 2020, pp.1-11.
https://search.emarefa.net/detail/BIM-1187594
Modern Language Association (MLA)
Chen, Yi-Ming…[et al.]. Genetic Association and Expression Correlation between Colony-Stimulating Factor 1 Gene Encoding M-CSF and Adult-Onset Still’s Disease. Journal of Immunology Research No. 2020 (2020), pp.1-11.
https://search.emarefa.net/detail/BIM-1187594
American Medical Association (AMA)
Chen, Yi-Ming& Hung, Wei-Ting& Chang, Wan-Chun& Hsieh, Chia-Wei& Chung, Wen-Hung& Lan, Joung-Liang…[et al.]. Genetic Association and Expression Correlation between Colony-Stimulating Factor 1 Gene Encoding M-CSF and Adult-Onset Still’s Disease. Journal of Immunology Research. 2020. Vol. 2020, no. 2020, pp.1-11.
https://search.emarefa.net/detail/BIM-1187594
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1187594