Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| Vanderbilt University Medical Center | OTHER |
Not provided
Not provided
Not provided
Not provided
Performing a phenome-wide association study (PheWAS) identifying clinical diagnoses associated with a polygenic predictor of Thyroid stimulating hormone (TSH) levels identified by a previously published genome-wide association study (GWAS). PheWAS will be applied in an electronic-health-record (EHR) cohort including North American (n: 37,154) and European participants using 1,318 phenotypes.
Applying a genetic predictor of thyroid stimulating hormone levels to an electronic-health-record cohort to verify associations with thyroid disorders as positive controls, and identify new associations .
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| BioVU-Emerge EHR cohort | A primary EHR population derived from the eMERGE Phase I & II Network (n=16,924), a consortium of medical centers using EHRs as a tool for genomic research, and from Vanderbilt University Medical Center's (VUMC) BioVU resource (n=20,230). BioVU is VUMC's de-identified collection of patients whose DNA was extracted from discarded blood and linked to phenotypes through a de-identified EHR. All subjects were born prior to 1990 and fell within 4 standard deviations for each of the first 2 principal components based on common single nucleotide variants (SNVs) for the subset of subjects self-identified as "White, non-Hispanic". |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| phenome-wide association study (PheWAS) | Genetic | Phenome-wide association study (PheWAS) identifying clinical diagnoses associated with a polygenic predictor of TSH levels identified by a previously published genome-wide association study (GWAS) which included North American and European participants. A phenome-wide scanning of 1,318 phenotypes will be performed, using a cohort of 37,154 North American individuals of European ancestry with electronic-health-record (EHR) data. |
| Measure | Description | Time Frame |
|---|---|---|
| thyroid disorders associated with a polygenic predictor of thyroid stimulating hormone levels | All relevants statisticals associations between a defined polygenic predictor of TSH and thyroids disorders | population inclued in the eMERGE Phase I & II Network or BioVU resource until 1 july 2018 |
| Measure | Description | Time Frame |
|---|---|---|
| Clinical diagnoses associated with a polygenic predictor of TSH levels | All relevants statisticals associations between a defined polygenic predictor of thyroid stimulating hormone and clinical diagnoses | population inclued in the eMERGE Phase I & II Network or BioVU resource until 1 july 2018 |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
A primary electronic health record population derived from the eMERGE Phase I & II Network (n=16,924), and from Vanderbilt University Medical Center's (VUMC) BioVU resource (n=20,230). All subjects born prior to 1990 and falling within 4 standard deviations for each of the first 2 principal components based on common single nucleotide variants (SNVs) for the subset of subjects self-identified as "White, non-Hispanic".
Thyroid Stimulating Hormone(TSH)-Population subgroup: Subjects of European Ancestry in BioVU who did not have any ICD-9 or ICD-10 codes for thyroid diseases and who had thyroid stimulating hormone (TSH) measurements that fell within the clinically normal reference range.
Not provided
Not provided
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| AP-HP, Pitié-Salpêtrière Hospital, Department of Pharmacology, CIC-1421, Pharmacovigilance Unit, INSERM | Paris | 75013 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 30673079 | Background | Salem JE, Shoemaker MB, Bastarache L, Shaffer CM, Glazer AM, Kroncke B, Wells QS, Shi M, Straub P, Jarvik GP, Larson EB, Velez Edwards DR, Edwards TL, Davis LK, Hakonarson H, Weng C, Fasel D, Knollmann BC, Wang TJ, Denny JC, Ellinor PT, Roden DM, Mosley JD. Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis. JAMA Cardiol. 2019 Feb 1;4(2):136-143. doi: 10.1001/jamacardio.2018.4615. |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D013959 | Thyroid Diseases |
| D020022 | Genetic Predisposition to Disease |
| ID | Term |
|---|---|
| D004700 | Endocrine System Diseases |
| D004198 | Disease Susceptibility |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
Not provided
Not provided
Not provided
Not provided
Not provided
|
| D013568 | Pathological Conditions, Signs and Symptoms |