PheWAS of a Polygenic Predictor of Thyroid Function (PHETHYR)

Groupe Hospitalier Pitie-Salpetriere

Status: Completed

Conditions: Genetic Predisposition to Disease; Thyroid

Treatments: Genetic: phenome-wide association study (PheWAS)

Study type: Observational

Funder types: Other

Identifiers

NCT03597659

CIC1421-18-09

Details and patient eligibility

About

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.

Full description

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 .

Enrollment: 37,154 patients

Sex: All

Ages: 28 to 100 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

37,154 participants in 1 patient group

BioVU-Emerge EHR cohort

Description:

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".

Treatment:

Genetic: phenome-wide association study (PheWAS)