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- Study Description
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Important Links and Information
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Request access via Authorized Access
- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that can have debilitating effects on multiple organ systems. In SLE, the pivotal immunologic disturbance is the formation of autoantibodies directed against nuclear and cellular antigens. These autoantibodies are associated with specific organ manifestations. Our previous work has shown that certain single nucleotide polymorphisms (SNPs) are associated with the production of SLE-related autoantibodies. However, these genetic associations do not completely explain autoantibody development in SLE. Therefore, we examined whether epigenetic factors such as DNA methylation may be associated with the development of SLE-related autoantibodies.
In this study, we examined whether differential DNA methylation is associated with anti-dsDNA, anti-SSA/Ro, anti-Smith, and anti-RNP autoantibodies. Using the Illumina HumanMethylation450 Beadchip, over 450,000 DNA methylation sites were characterized in 325 female SLE cases of European descent. Using a multivariable regression analyses, the methylation status of 16 CpG sites in 11 genes was found to be associated with the SLE-related autoantibodies under study. This study shows that epigenetic factors are associated with autoimmune disease phenotypes, and epigenetic studies are a complementary method to genetic association studies for understanding the biologic mechanisms contributing to autoimmune disease.
- Study Design:
- Case Set
- Study Type:
- Case Set
- Total number of consented subjects: 325
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data
- Link to other NCBI resources related to this study
- Study Inclusion/Exclusion Criteria
This study included women of European descent who met the American College of Rheumatology (ACR) criteria for a diagnosis of SLE as determined by medical record review. The women included in the study reported no history of smoking through questionnaires.
- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment DNA Methylation Illumina Infinium HumanMethylation450 BeadChip N/A N/A - Study History
Participants in the Genome-wide assessment of DNA methylation in SLE-related autoantibodies study are part of the Lupus Genetics Research Project at the University of California, San Francisco (UCSF). For the Lupus Genetics Research Project, lupus patients were recruited nationwide and through rheumatology clinics at UCSF and rheumatology practices in the San Francisco area. Participants in the Lupus Genetics Project have been studied in candidate gene and genome-wide association studies of SLE.
- Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Systemic Lupus Erythematosus
- Autoantibodies
- Autoimmune Diseases
- Links to Related Genes
- Authorized Data Access Requests
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See research articles citing use of the data from this study
- Study Attribution
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Principal Investigator
- Sharon A. Chung, MD. University of California, San Francisco, CA, USA.
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Co-Investigators
- Lindsey A. Criswell, MD MPH. University of California, San Francisco, CA, USA.
- Lisa F. Barcellos, PhD. University of California, Berkeley, CA, USA.
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Funding Sources
- KL2 TR000143. National Institutes of Health, Bethesda, MD, USA.
- R01 AR44804. National Institutes of Health, Bethesda, MD, USA.
- R01 AR052300. National Institutes of Health, Bethesda, MD, USA.
- K24 AR02175. National Institutes of Health, Bethesda, MD, USA.
- UL1 TR000004. National Institutes of Health, Bethesda, MD, USA.
- P60 AR053308. National Institutes of Health, Bethesda, MD, USA.
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Principal Investigator