PheWAS of a Polygenic Predictor of Thyroid Function

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03597659

Acronym

PHETHYR

Enrollment

37154

Registered

2018-07-24

Start date

2017-09-01

Completion date

2018-07-01

Last updated

2019-09-26

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Genetic Predisposition to Disease, Thyroid

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 .

Interventions

GENETICphenome-wide association study (PheWAS)

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.

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

28 Years to 100 Years

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026