Clinical trial NCT03597659: PheWAS of a Polygenic Predictor of Thyroid Function
Official title: PheWAS of a Polygenic Predictor of Thyroid Function
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Thyroid
Genetic Predisposition to Disease
Lead sponsor: Groupe Hospitalier Pitie-Salpetriere
Sponsor class: OTHER
Collaborators: name: Vanderbilt University Medical Center
First posted: 2018-07-24
Enrollment: 37154
Sex: ALL
Minimum age (years): 28
Maximum age (years): 100
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: A primary electronic health record population derived from the eMERGE Phase I \& II Network (n=16,924), and from Vanderbilt University Medical Center's (VUMC) BioVU resource (n=20,230). All subjects born prior to 1990 and 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".

Thyroid Stimulating Hormone(TSH)-Population subgroup: Subjects of European Ancestry in BioVU who did not have any ICD-9 or ICD-10 codes for thyroid diseases and who had thyroid stimulating hormone (TSH) measurements that fell within the clinically normal reference range.

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 .

Eligibility criteria: 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

Primary outcomes:
measure: thyroid disorders associated with a polygenic predictor of thyroid stimulating hormone levels
timeFrame: population inclued in the eMERGE Phase I & II Network or BioVU resource until 1 july 2018
Secondary outcomes:
measure: Clinical diagnoses associated with a polygenic predictor of TSH levels
timeFrame: population inclued in the eMERGE Phase I & II Network or BioVU resource until 1 july 2018
Other outcomes:
Locations:
city: Paris
country: France
facility: AP-HP, Pitié-Salpêtrière Hospital, Department of Pharmacology, CIC-1421, Pharmacovigilance Unit, INSERM
Study officials:
References:
citation: 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.