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Completed

NCT Number: NCT03597659

PheWAS of a Polygenic Predictor of Thyroid Function

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.

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Key information

Conditions

Thyroid Disease Attributes Disease Susceptibility Endocrine System Diseases Genetic Predisposition to Disease Pathologic Processes Pathological Conditions, Signs and Symptoms Thyroid Diseases

Age range

28 year–100 year

Sex eligibility

All sexes

Study type

Observational

Primary location

AP-HP, Pitié-Salpêtrière Hospital, Department of Pharmacology, CIC-1421, Pharmacovigilance Unit, INSERM

Paris, 75013, France

About this study

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 .

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

phenome-wide association study (PheWAS)

Genetic

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.

Primary outcomes

  1. thyroid disorders associated with a polygenic predictor of thyroid stimulating hormone levels

    Time frame: 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 outcomes

  1. Clinical diagnoses associated with a polygenic predictor of TSH levels

    Time frame: 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

Sponsors and collaborators

Lead sponsor

Groupe Hospitalier Pitie-Salpetriere

Other

Collaborators

  • Vanderbilt University Medical Center

Registry information

Acronym: PHETHYR

Important dates

Study start
2017
Primary completion
2018
Study completion
2018
First posted
Jul 24, 2018
Registry last updated
Sep 26, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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