例如:"lncRNA", "apoptosis", "WRKY"

Genetic Association and Expression Correlation between Colony-Stimulating Factor 1 Gene Encoding M-CSF and Adult-Onset Still's Disease.

J Immunol Res. 2020 Feb 14;2020:8640719. doi:10.1155/2020/8640719. eCollection 2020
Yi-Ming Chen 1 , Wei-Ting Hung 2 , Wan-Chun Chang 3 , Chia-Wei Hsieh 1 , Wen-Hung Chung 4 , Joung-Liang Lan 5 , Ning-Rong Gung 6 , Yun-Shien Lee 7 , Der-Yuan Chen 8 , Shuen-Iu Hung 9
Yi-Ming Chen 1 , Wei-Ting Hung 2 , Wan-Chun Chang 3 , Chia-Wei Hsieh 1 , Wen-Hung Chung 4 , Joung-Liang Lan 5 , Ning-Rong Gung 6 , Yun-Shien Lee 7 , Der-Yuan Chen 8 , Shuen-Iu Hung 9
+ et al

[No authors listed]

Author information
  • 1 Ph.D. Program in Translational Medicine, National Chung Hsing University, 402 Taichung, Taiwan.
  • 2 Institute of Clinical Medicine, National Yang Ming University, 112 Taipei, Taiwan.
  • 3 Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Linkou Chang Gung Hospital, 333 Taoyuan, Taiwan.
  • 4 Whole-Genome Research Core Laboratory of Human Diseases, Chang Gung Memorial Hospital, 204 Keelung, Taiwan.
  • 5 Rheumatic Diseases Research Laboratory, Rheumatology and Immunology Center, China Medical University Hospital, 404 Taichung, Taiwan.
  • 6 Rheumatology and Immunology Center, China Medical University Hospital, 404 Taichung, Taiwan.
  • 7 Department of Biotechnology, Ming Chuan University, 333 Taoyuan, Taiwan.
  • 8 Translational Medicine Laboratory, Rheumatology and Immunology Center, China Medical University Hospital, 404 Taichung, Taiwan.
  • 9 Institute of Pharmacology, National Yang-Ming University, 112 Taipei, Taiwan.

摘要


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.