ID
45721
Descrição
Principal Investigator: Courtney Montgomery, PhD, Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA MeSH: Sarcoidosis https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001207 This study aims to comprehensively interrogate the genomes of African American sarcoidosis families. Sarcoidosis is characterized by a hyperimmune response resulting in granuloma formation in multiple organs. It affects African Americans (AAs) more frequently and more severely than whites. While previous linkage, admixture, candidate gene and genome-wide association (GWA) studies show statistically compelling effects, causal variants are still unknown and much of sarcoidosis heritability is yet to be explained. This "missing" heritability likely includes effects of both common (minor allele frequency (MAF)5%) and rare variants (MAF5%), since, in AAs, the former are inadequately represented and the latter are completely unexplored by commercial genotyping arrays. These facts, coupled with the availability of next-generation sequencing compel us to perform an exhaustive search for genetic variants that form the basis of sarcoidosis. The data generated are certain to identify candidate causal variants, provide fundamental insight for functional studies and lead to important new hypotheses of inflammation resulting in new treatments in not only sarcoidosis but other inflammatory diseases as well.
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Versões (1)
- 2023-05-23 2023-05-23 - Chiara Middel
Titular dos direitos
Courtney Montgomery, PhD, Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA
Transferido a
23 maj 2023
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs001207 NHLBI TOPMed: African American Sarcoidosis Genetics Resource
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, and biological sex.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and subject's sex.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This subject phenotypes data table includes sex, race, sarcoidosis status, respiratory function test (n=5 variables; FEV1 at diagnosis, FEV1 %, FVC at diagnosis, FVC %, and FEV1/FVC), and scadding stage at first and follow-up chest x-ray.
- This sample attributes table includes body site where sample was collected, analyte type, tumor status, sequencing center, funding source, TOPMed phase, project, and study name.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, and biological sex.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and subject's sex.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This subject phenotypes data table includes sex, race, sarcoidosis status, respiratory function test (n=5 variables; FEV1 at diagnosis, FEV1 %, FVC at diagnosis, FVC %, and FEV1/FVC), and scadding stage at first and follow-up chest x-ray.
- This sample attributes table includes body site where sample was collected, analyte type, tumor status, sequencing center, funding source, TOPMed phase, project, and study name.
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