PheWAS of a Polygenic Predictor of Thyroid Function

Completed

• Conditions: Genetic Predisposition to Disease; Thyroid
• Interventions: Genetic: phenome-wide association study (PheWAS)

• Registration Number: NCT03597659
• Lead Sponsor: Groupe Hospitalier Pitie-Salpetriere

Brief Summary

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

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 .

Study Timeline

• Study Start: 2017-09-01
• Primary Completion: 2018-07-01
• Study Completion: 2018-07-01
• Study First Submitted: 2018-07-13
• Study First Submitted QC: 2018-07-13
• Study First Posted: 2018-07-24
• Status Verified: 2019-09
• Last Update Submitted: 2019-09-24
• Last Update Posted: 2019-09-26

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 37154

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
BioVU-Emerge EHR cohort	phenome-wide association study (PheWAS)	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".

Primary Outcome Measures

Name	Time	Method
thyroid disorders associated with a polygenic predictor of thyroid stimulating hormone levels	population inclued in the eMERGE Phase I & II Network or BioVU resource until 1 july 2018	All relevants statisticals associations between a defined polygenic predictor of TSH and thyroids disorders

Secondary Outcome Measures

Name	Time	Method
Clinical diagnoses associated with a polygenic predictor of TSH levels	population inclued in the eMERGE Phase I & II Network or BioVU resource until 1 july 2018	All relevants statisticals associations between a defined polygenic predictor of thyroid stimulating hormone and clinical diagnoses

Trial Locations

Locations (1)

AP-HP, Pitié-Salpêtrière Hospital, Department of Pharmacology, CIC-1421, Pharmacovigilance Unit, INSERM; 🇫🇷 Paris, France