rs11102024 - LINC01768 - CSF1

Magnitude 4.5 · 1 study on file

Reported associations

• 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) · Chen YM, Hung WT, Chang WC, Hsieh CW, Chung WH, Lan JL, Gung NR, Lee YS, Chen DY, Hung SI · PubMed 32149159

  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 encoding macrophage colony-stimulating factor (M-CSF) was associated with AOSD ( = 1.20 × 10 , OR (95% CI): 3.28

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