scholarly journals Molecular heterogeneity of complement component c4-null and 21-hydroxylase genes in systemic lupus erythematosus

1988 ◽  
Vol 31 (6) ◽  
pp. 736-744 ◽  
Author(s):  
Rose Goldstein ◽  
Frank C. Arnett ◽  
Robert H. Mclean ◽  
Wilma B. Bias ◽  
Madeleine Duvic
2001 ◽  
Vol 44 (6) ◽  
pp. 1331-1335 ◽  
Author(s):  
Javier Cruz ◽  
Antonio Avi�a-Zubieta ◽  
Gonzalo Mart�nez De La Escalera ◽  
Carmen Clapp ◽  
Carlos Lavalle

Lupus ◽  
2004 ◽  
Vol 13 (8) ◽  
pp. 575-583 ◽  
Author(s):  
M García ◽  
M E Colombani-Vidal ◽  
C C Zylbersztein ◽  
A Testi ◽  
J Marcos ◽  
...  

1993 ◽  
Vol 20 (1) ◽  
pp. 11-21 ◽  
Author(s):  
Q. Fan ◽  
B. Uring-Lambert ◽  
B. Weill ◽  
C. Gautreau ◽  
C.J. Menkes ◽  
...  

2020 ◽  
Author(s):  
Michelle D. Catalina ◽  
Prathyusha Bachali ◽  
Anthony E. Yeo ◽  
Nicholas S. Geraci ◽  
Michelle A. Petri ◽  
...  

AbstractGene expression signatures can stratify patients with heterogeneous diseases, such as Systemic Lupus Erythematosus (SLE), yet understanding the contributions of ancestral background to this heterogeneity is not well elucidated. We hypothesized that ancestry would significantly influence gene expression signatures and measured 34 gene modules in 1566 SLE patients of african (AA), european (EA) or native american (NAA) ancestry to determine the impact of ancestry on gene expression. Healthy subject ancestry-specific gene expression provided the transcriptomic background upon which the SLE patient signatures were built. Although standard therapy affected every gene signature, and significantly increased myeloid cell signatures, logistic regression analysis determined that ancestral background significantly changed 23/34 gene signatures. Additionally, the strongest association to gene expression changes was autoantibodies and this also had etiology in ancestry; the AA predisposition to have both RNP and dsDNA autoantibodies compared to EA predisposition to have only antidsDNA. A machine learning approach was used to determine a gene signature characteristic to distinguish AA SLE and was most influenced by genes characteristic of the perturbed B cell axis in AA SLE patients.


2018 ◽  
Author(s):  
João J. Oliveira ◽  
Sarah Karrar ◽  
Daniel B. Rainbow ◽  
Christopher L. Pinder ◽  
Pamela Clarke ◽  
...  

AbstractThe molecular heterogeneity of autoimmune and inflammatory diseases has been one of the main obstacles to the development of safe and specific therapeutic options. Here we have evaluated the diagnostic and clinical value of a robust, inexpensive, immunoassay detecting the circulating soluble form of the monocyte-specific surface receptor sialic acid binding Ig-like lectin 1 (sSIGLEC-1).We developed an immunoassay to measure sSIGLEC-1 in small volumes of plasma/serum from systemic lupus erythematosus (SLE) patients and healthy donors. Plasma concentrations of sSIGLEC-1 strongly correlated with expression of SIGLEC-1 on the surface of blood monocytes and with type I interferon (IFN)-regulated gene (IRG) expression in SLE patients. In addition, we identified marked ancestry-related differences in sSIGLEC-1 concentrations in SLE patients, with patients of non-European ancestry showing higher levels compared to patients of European ancestry. Higher sSIGLEC-1 concentrations were associated with lower serum complement component 3 and increased frequency of renal complications in European patients, but not with the SLEDAI clinical score.Our sSIGLEC-1 immunoassay provides a specific and easily-assayed marker for monocyte-macrophage activation, and interferonopathy in SLE and other diseases. Further studies can extend its clinical associations and its potential use to stratify patients and as a secondary endpoint in trials.


JCI Insight ◽  
2020 ◽  
Vol 5 (15) ◽  
Author(s):  
Michelle D. Catalina ◽  
Prathyusha Bachali ◽  
Anthony E. Yeo ◽  
Nicholas S. Geraci ◽  
Michelle A. Petri ◽  
...  

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