PheWAS of a Polygenic Predictor of Thyroid Function

Thyroid Clinical Trial

— PHETHYR  

Official title:

PheWAS of a Polygenic Predictor of Thyroid Function

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03597659
• Other study ID #: CIC1421-18-09
• Status: Completed
• Start date: September 1, 2017
• Est. completion date: July 1, 2018

Study information

• Verified date: September 2019
• Source: Groupe Hospitalier Pitie-Salpetriere
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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 .

Recruitment information / eligibility

• Status: Completed
• Enrollment: 37154
• Est. completion date: July 1, 2018
• Est. primary completion date: July 1, 2018
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 28 Years to 100 Years

Eligibility

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

Related Conditions & MeSH terms

• Disease Susceptibility
• Genetic Predisposition to Disease
• Thyroid
• Thyroid Diseases

Intervention

Genetic:
• phenome-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.

Locations

Country	Name	City	State
France	AP-HP, Pitié-Salpêtrière Hospital, Department of Pharmacology, CIC-1421, Pharmacovigilance Unit, INSERM	Paris

Sponsors (2)

Lead Sponsor	Collaborator
Groupe Hospitalier Pitie-Salpetriere	Vanderbilt University Medical Center

Country where clinical trial is conducted

France, 

References & Publications (1)

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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