ID
45155
Beschrijving
Principal Investigator: Maureen D. Mayes, MD, MPH, University of Texas Health Science Center, Houston, TX, USA MeSH: Systemic Sclerosis,Scleroderma, Systemic https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000357 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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Versies (2)
- 04-09-22 04-09-22 - Simon Heim
- 12-10-22 12-10-22 - Adrian Schulz
Houder van rechten
Maureen D. Mayes, MD, MPH, University of Texas Health Science Center, Houston, TX, USA
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12 oktober 2022
DOI
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Creative Commons BY 4.0
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dbGaP phs000357 Genome-Wide Association Study in Systemic Sclerosis
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject - Consent Information
- Subject-Sample Mapping - The second release includes added genotype data from the Illumina immuno chip array.
- The dataset provides information of the immunocytochemistry results (indirect immunocytochemistry, immunodiffusion; positive/negative), following the use of e.g. anti-nuclear, anti-Smith, anti-Sj�gren's syndrome A/B etc., antibodies.
- The dataset provides information about diagnoses of e.g. primary biliary cirrhosis, sclerodermal renal crisis (SRC; presence/absence), creatinine levels and age of SRC onset.
- The dataset provides general demographic informaton, such as age, ethnicity, gender, size of subject's family (e.g. number of brothers/sisters), and age of disease onset. Other variables describe criteria used to assess and confirm disease status, and for female subjects, pregnancy/birthing history, e.g. number of live/still births, normal/tube pregancies, miscarriages, etc..
- The dataset contains data on lung function/capacity (FEV/FVC), heart function (ECG), pulmonary hypertension (mild to severe), chest X-ray/CAT-scan results, and age when various diagnostic tests were taken.
- Data describing sample attributes (source and sample type).
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject - Consent Information
- Subject-Sample Mapping - The second release includes added genotype data from the Illumina immuno chip array.
- The dataset provides information of the immunocytochemistry results (indirect immunocytochemistry, immunodiffusion; positive/negative), following the use of e.g. anti-nuclear, anti-Smith, anti-Sj�gren's syndrome A/B etc., antibodies.
- The dataset provides information about diagnoses of e.g. primary biliary cirrhosis, sclerodermal renal crisis (SRC; presence/absence), creatinine levels and age of SRC onset.
- The dataset provides general demographic informaton, such as age, ethnicity, gender, size of subject's family (e.g. number of brothers/sisters), and age of disease onset. Other variables describe criteria used to assess and confirm disease status, and for female subjects, pregnancy/birthing history, e.g. number of live/still births, normal/tube pregancies, miscarriages, etc..
- The dataset contains data on lung function/capacity (FEV/FVC), heart function (ECG), pulmonary hypertension (mild to severe), chest X-ray/CAT-scan results, and age when various diagnostic tests were taken.
- Data describing sample attributes (source and sample type).
C0036421 (UMLS CUI [1,2])
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C0243161 (UMLS CUI [1,4])
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C0205165 (UMLS CUI [1,3])
C0243161 (UMLS CUI [1,4])
C0150988 (UMLS CUI [1,5])
C1512693 (UMLS CUI [1,2])
C0205165 (UMLS CUI [1,3])
C0243161 (UMLS CUI [1,4])
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C1410898 (UMLS CUI [1,6])
C0459764 (UMLS CUI [1,7])
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C0205165 (UMLS CUI [1,3])
C0243161 (UMLS CUI [1,4])
C0034069 (UMLS CUI [1,5])
C0238767 (UMLS CUI [1,6])
C1184146 (UMLS CUI [1,7])
C1512693 (UMLS CUI [1,2])
C0243161 (UMLS CUI [1,3])
C1706256 (UMLS CUI [1,2])
C0036421 (UMLS CUI [1,3])
C1515010 (UMLS CUI [1,4])
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C0036421 (UMLS CUI [1,3])
C0206138 (UMLS CUI [1,4])
C0006663 (UMLS CUI [1,5])
C0034735 (UMLS CUI [1,6])
C0014858 (UMLS CUI [1,7])
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C0039446 (UMLS CUI [1,9])
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C1706256 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
C1706256 (UMLS CUI [1,2])
C0021430 (UMLS CUI [1,3])
C1299582 (UMLS CUI [1,4])