Dataset Information
Genome-Wide Association Study in Systemic Sclerosis
Ontology highlight
ABSTRACT: The Scleroderma Family Registry and DNA Repository (Registry) was initially developed as a registry and bio-specimen repository of patients with systemic sclerosis (scleroderma), family members and unaffected normal controls. A case-control design was later adopted due to the lack of availability of many parents in this adult-onset disease, which precluded a linkage approach. In addition to collecting demographic data, the registry included the collection of disease-pertinent, cross-sectional, clinical information from medical records of affected participants. Registry participants were ≥18 years of age at enrollment. On the basis of medical record review, all cases were verified by the principal investigator to meet the eligibility criteria. 800+ blood samples from verified affected cases of European ancestry were selected for a Genome Wide Association Study (GWAS). These genetic data, as well as phenotypic data, are available in dbGaP. DNA, serum and plasma from Registry participants, which are currently being stored in the University of Texas Health Science Center - Houston, Scleroderma Registry Genetic Repository, are available for research purposes. However, not all of the 800+ registry participants who submitted a blood sample currently have DNA available due to depletion of some samples. In addition to including the SNP data from the genome-wide scan on the 800+ samples, this dbGaP database provides a set of data tables with phenotypic information collected from the participants in the registry.
PROVIDER: phs000357.v1.p1 | EGA |
REPOSITORIES: EGA
Publications
Novel identification of the IRF7 region as an anticentromere autoantibody propensity locus in systemic sclerosis.
Annals of the rheumatic diseases 20110916 1
<h4>Objective</h4>Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) are related chronic autoimmune diseases of complex aetiology in which the interferon (IFN) pathway plays a key role. Recent studies have reported an association between IRF7 and SLE which confers a risk to autoantibody production. A study was undertaken to investigate whether the IRF7 genomic region is also involved in susceptibility to SSc and the main clinical features.<h4>Methods</h4>Two case-control sets of Cau ...[more]
