PheWAS of a Polygenic Predictor of Thyroid Function

Study Overview
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Brief Summary
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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.

Detailed Description
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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 .

Official Title
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PheWAS of a Polygenic Predictor of Thyroid Function

Conditions
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Thyroid, Genetic Predisposition to Disease

Intervention / Treatment
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* Genetic: phenome-wide association study (PheWAS)


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Being part of the eMERGE Phase I & II Network Being part of the BioVU resource 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 Exclusion Criteria: born after 1990

Ages Eligible for Study
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Minimum Age: 28 Years
Maximum Age: 100 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| BioVU-Emerge EHR cohort<br>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. | Genetic: phenome-wide association study (PheWAS)<br>* 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.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 | 

Secondary Outcome Measures

| Outcome Measure | 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 |