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. However, not all of the 800+ registry participants who submitted a blood sample currently have DNA available due to depletion of some samples. 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. These genetic data, as well as phenotypic data, are available in dbGaP. On the basis of medical record review, all cases were verified by the principal investigator to meet the eligibility criteria.Ĩ00+ blood samples from verified affected cases of European ancestry were selected for a Genome Wide Association Study (GWAS). Registry participants were ≥18 years of age at enrollment. In addition to collecting demographic data, the registry included the collection of disease-pertinent, cross-sectional, clinical information from medical records of affected participants. 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. 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.
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