Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
immunology and microbiology
Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations
Journal of Autoimmunity, Volume 34, No. 2, Year 2010
Notification
URL copied to clipboard!
Description
Objective: Genetic studies in the systemic sclerosis (SSc), an autoimmune disease that clinically manifests with dermal and internal organ fibrosis and small vessel vasculopathy, have identified multiple susceptibility genes including HLA-class II, PTPN22, IRF5, and STAT4 which have also been associated with other autoimmune diseases, such as systemic lupus erythematosus (SLE). These data suggest that there are common autoimmune disease susceptibility genes. The current report sought to determine if polymorphisms in the C8orf13-BLK region (chromosome 8p23.1-B lymphoid tyrosine kinase), which is associated with SLE, are associated also with SSc. Methods: Two variants in the C8orf13-BLK region (rs13277113 & rs2736340) were tested for association with 1050 SSc cases and 694 controls of North Americans of European descent and replicated in a second series 589 SSc cases and 722 controls from Spain. Results: The "T" allele at rs2736340 variant was associated with SSc in both the U.S. and Spanish case-control series (P = 6.8 × 10-5, OR 1.27, 95% CI 1.1-1.4). The "A" allele at rs13277113 variant was associated with SSc in the U.S. series only (P = 3.6 × 10-4, OR 1.32, 95% CI 1.1-1.6) and was significant in the combined analyses of the two series (P = 2.0 × 10-3; OR 1.20, 95% CI 1.1-1.3). Both variants demonstrated an association with the anti-centromere antibody (P = 2.2 × 10-6 and P = 5.5 × 10-4, respectively) and limited SSc (P = 3.3 × 10-5 and P = 2.9 × 10-3, respectively) in the combined analysis. Peripheral blood gene expression profiles suggest that B-cell receptor and NFκB signaling are dysregulated based on the risk haplotype of these variants. Conclusion: We identify and replicate the association of the C8orf13-BLK region as a novel susceptibility factor for SSc, placing it in the category of common autoimmune disease susceptibility genes. © 2009 Elsevier Ltd. All rights reserved.
Authors & Co-Authors
Rueda, Blanca
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Shete, Sanjay S.
United States, Houston
University of Texas Health Science Center at Houston
Reveille, John D.
United States, Houston
University of Texas Health Science Center at Houston
Radstake, Timothy R.D.J.
Netherlands, Nijmegen
Radboud University Medical Center
Vicente-Rabaneda, Esther Francisca
Spain, Madrid
Hospital Universitario de la Princesa
González-Gay, Miguel Ángel
Spain, Lugo
Complejo Hospitalario Xeral Calde
Mayes, Maureen Davidica
United States, Houston
University of Texas Health Science Center at Houston
Martin, Javier
Spain, Madrid
Consejo Superior de Investigaciones Científicas
Statistics
Citations: 138
Authors: 8
Affiliations: 9
Identifiers
Doi:
10.1016/j.jaut.2009.08.014
ISSN:
08968411
Research Areas
Genetics And Genomics
Study Design
Case-Control Study