Individuals are considered eligible if the diagnosis of systemic sclerosis is confirmed by meeting the 1980 Preliminary Criteria for the Classification of Systemic Sclerosis OR if 3 of the 5 CREST features are documented to be present by medical record review as outlined below.
Inclusion Criteria: 1980 Preliminary Criteria for the Classification of Systemic Sclerosis
The American College of Rheumatology (former American Rheumatism Association - ARA) has defined criteria, that are 97% sensitive and 98% specific for systemic sclerosis (SSc) as follows:
Major criterion:
Minor criteria:
The patient should fulfill the major criterion or two of the three minor criteria.
Subsets of Systemic Sclerosis
| Diffuse | Limited* | |
|---|---|---|
| Skin involvement | Distal and proximal Extremities and/or the trunk | Distal to elbows and knees |
In addition, a diagnosis of systemic sclerosis is considered present if at least 3 out of 5 of the CREST features are present. These include: Calcinosis, Raynaud's phenomenon, esophageal dysmotility, Sclerodactyly and Telangiectasias.
Exclusion Criteria:
Scleroderma Family Registry and DNA Repository/Two-Stage Genome Wide Association Study Timeline
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 healthy 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 SNP data from the genome-wide (first study release) and immunochip (second study release) scan on the 800+ samples, the dbGaP database provides a set of data tables with phenotypic information collected from the participants in the registry.
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