To study complex genetic and gene-environment interactions in heterogeneous diseases such as scleroderma (SSc) and systemic lupus erythematosus (SLE) as proposed in Projects 1 and 2, large numbers of patients and well characterized samples and genetic data must be accessible for analysis in a single database. Samples and clinical data must be of high quality to reduce variability. The acquisition of data and samples must be cost-effective to be feasible. The purpose of the Patient Resource Core is to recruit and retain a well characterized group of persons with the diagnosis of either SLE or SSc or healthy controls for clinical and biological studies. This population is necessary to carry out the aims of Projects 1 and 2 and future projects initiated by the research base and other future investigators. Subjects will be recruited from MUSC Clinics. The core will develop, in collaboration with the SCTR Biomedical Informatics Core, a recruitment tool that identifies, from the Clinical Data Warehouse patients with the diagnosis of SLE or Sac prior to the clinic visit. Subjects will also be recruited from lay organizations and from community physicians carrying for such patients. A full time study coordinator will recruit and retain these subjects and gather information from them. The collected information will include demographic, social, environmental, genetic, and clinical data. Innovations will include obtaining data electronically from the MUSC Clinical Data Warehouse and piloting a text-mining program to retrieve items from electronic narrative reports (e.g. progress notes, imaging studies, echocardiography, cardiac catheterization reports, and biopsy results) for a recruiting tool. Data will be entered into longitudinal REDCap electronic databases (an existing SLE database will be moved to REDCap and a newly constructed SSc database will be created) so that these can be retrieved easily by the Project 1 and 2 investigators and the research base. Biologic samples (serum, urine, cells, DNA, RNA, and tissue) obtained from the SLE and SSc subjects will be stored using nationally recognized standard operating procedures^ These specimens will be electronically entered and tracked to be readily retrievable for studies. The biologic;specimens will be linked to the information in the REDCap and electronic medical record databases for seamless queries in an i2b2 workbench. This type of integrated data will accelerate the progress of gene and gene-environment studies proposed in Projects 1 and 2.

Public Health Relevance

The Patient Resource Core serves the Projects and research base to accelerate translational research in scleroderma and lupus to increase knowledge of pathways of risk factors and triggers for these two devastating diseases that can be modified to improve and prevent these diseases. Our community partnership increases the likelihood of translating findings to impact the community.

National Institute of Health (NIH)
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Comprehensive Center (P60)
Project #
Application #
Study Section
Special Emphasis Panel (ZAR1-KM)
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Medical University of South Carolina
United States
Zip Code
Putterman, Chaim; Wu, Alan; Reiner-Benaim, Anat et al. (2016) SLE-key(®) rule-out serologic test for excluding the diagnosis of systemic lupus erythematosus: Developing the ImmunArray iCHIP(®). J Immunol Methods 429:1-6
Deng, Yun; Zhao, Jian; Sakurai, Daisuke et al. (2016) Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production. Ann Rheum Dis 75:2007-2013
Zhao, Jian; Giles, Brendan M; Taylor, Rhonda L et al. (2016) Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA. Ann Rheum Dis 75:242-52
Toci, Ashley L; Hyer, J Madison; Silver, Richard M et al. (2016) Systemic Sclerosis and Perceptions of Quality in Primary Care. Am J Med Sci 351:447-51
Wolf, Bethany J; Spainhour, John C; Arthur, John M et al. (2016) Development of Biomarker Models to Predict Outcomes in Lupus Nephritis. Arthritis Rheumatol 68:1955-63
Liu, Ke; Kurien, Biji T; Zimmerman, Sarah L et al. (2016) X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome. Arthritis Rheumatol 68:1290-300
Atanelishvili, Ilia; Shirai, Yuichiro; Akter, Tanjina et al. (2016) M10, a caspase cleavage product of the hepatocyte growth factor receptor, interacts with Smad2 and demonstrates antifibrotic properties in vitro and in vivo. Transl Res 170:99-111
Zhou, Zejun; Ding, Miao; Huang, Lei et al. (2016) Toll-like receptor-mediated immune responses in intestinal macrophages; implications for mucosal immunity and autoimmune diseases. Clin Immunol 173:81-86
Ramos, Paula S; Silver, Richard M; Feghali-Bostwick, Carol A (2015) Genetics of systemic sclerosis: recent advances. Curr Opin Rheumatol 27:521-9
Lu, Xiaoming; Zoller, Erin E; Weirauch, Matthew T et al. (2015) Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression. Am J Hum Genet 96:731-9

Showing the most recent 10 out of 58 publications