Evidence map›Paper›PMID 36093044›Full record

ArticleiScience2022

Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms.

Samuel Mathieu, Mewen Briend, Erik Abner, Christian Couture, Zhonglin Li, Yohan Bossé, Sébastien Thériault, Tõnu Esko, Benoit J Arsenault, Patrick Mathieu

Open access · goldAbstract read
In one paragraph

Article in iScience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 3 pooled it
2.3field-weighted citation impact, top 11% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

19 citing papers in PubMed, 3 syntheses or guidelines pooled it, 29 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
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  14. Risk of Alzheimer's disease in Down syndrome: Insights gained by multi-omics.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Review
  15. Article
  16. Thyroid Function, Diabetes, and Common Age-Related Eye Diseases: A Mendelian Randomization Study.Thyroid : official journal of the American Thyroid Association · 2024
    Article
  17. Article
  18. Article
  19. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 2 institutions in 2 countries.

Samuel MathieuGenomic Medecine and Molecular Epidemiology Laboratory, Quebec Heart and Lung Institute, Laval University, Québec, QC, Canada.
Mewen BriendGenomic Medecine and Molecular Epidemiology Laboratory, Quebec Heart and Lung Institute, Laval University, Québec, QC, Canada.
Erik AbnerInstitute of Genomics, University of Tartu, Tartu, Estonia.
Christian CoutureGenomic Medecine and Molecular Epidemiology Laboratory, Quebec Heart and Lung Institute, Laval University, Québec, QC, Canada.
Zhonglin LiQuebec Heart and Lung Institute, Laval University, Québec, QC, Canada.
Yohan BosséQuebec Heart and Lung Institute, Laval University, Québec, QC, Canada.
Sébastien ThériaultQuebec Heart and Lung Institute, Laval University, Québec, QC, Canada.
Tõnu EskoInstitute of Genomics, University of Tartu, Tartu, Estonia.
Benoit J ArsenaultGenomic Medecine and Molecular Epidemiology Laboratory, Quebec Heart and Lung Institute, Laval University, Québec, QC, Canada.
Patrick MathieuGenomic Medecine and Molecular Epidemiology Laboratory, Quebec Heart and Lung Institute, Laval University, Québec, QC, Canada.
Université Laval · CAUniversity of Tartu · EE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We carried out a genome-wide association analysis including 51,194 cases of hypothyroidism and 443,383 controls. In total, 139 risk loci were associated to hypothyroidism with genes involved in lymphocyte function. Candidate genes associated with hypothyroidism were identified by using molecular quantitative trait loci, colocalization, and enhancer-promoter chromatin looping. Mendelian randomization (MR) identified 42 blood expressed genes and circulating proteins as candidate causal molecules in hypothyroidism. Drug-gene interaction analysis provided evidence that immune checkpoint and tyrosine kinase inhibitors used in cancer therapy increase the risk of hypothyroidism. Hence, integrative mapping and MR support that expression of genes and proteins enriched in lymphocyte function are associated with the risk of hypothyroidism and provide genetic evidence for drug-induced hypothyroidism and identify actionable potential drug targets.

Indexed as

Clinical geneticsGenomicsMolecular genetics

Identifiers

PMID36093044
PMCPMC9460554
OpenAlexW4292805223

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.