ReviewThe Journal of clinical endocrinology and metabolism2025
Genetics of Thyroid Function: Relevance for Biology and Disease Management.
Review in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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.
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.
Who cites it
2 citing papers in PubMed.
- Arrhythmia and cardiomyopathy risk in Taiwan with complementary biobank evidence on thyroid genetic susceptibility: an integrative population-based framework.Endocrine connections · 2026Article
- Natural history of thyroid function in ageing: an individual participant data analysis of 137 488 participants from 31 prospective cohort studies.The lancet. Diabetes & endocrinology · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
contextGenetic factors are a major contributor to variation in thyroid function. Recent studies have partly identified the responsible common genetic variants and studied their application in unraveling thyroid (patho)physiology as well as their potential clinical use. EVIDENCE ACQUISITION: This review summarizes the current state of knowledge regarding the genetic architecture of thyroid function as well as its applications to improve (patho)physiological understanding and clinical management of thyroid (dys)function. EVIDENCE SYNTHESIS: Genome-wide association studies (GWAS) have been successful in detecting numerous genetic variants affecting variation in thyrotropin (TSH), free thyroxine, and triiodothyronine concentrations. Subsequent emerging high-throughput in silico and in vitro strategies are of particular value in unraveling functionality of these novel genes and its genetic variants. Translational methods such as mendelian randomization (MR) and polygenic scores (PGSs) can provide important insights into causal associations or susceptibility to disease. Moreover, PGSs show potential in adjusting personalized TSH reference ranges by distinguishing between individual hypothalamic-pituitary-thyroid-axis set-point effects and (subclinical) thyroid dysfunction.
conclusionFunctional characterization of the associated genes and variants in GWAS is warranted as the majority are located in genes with a yet unknown role in thyroid hormone physiology. Integration of multi-omics data and optimalization of translational applications such as MR and PGS show potential to further unravel the underlying molecular mechanisms and pave the way for incorporation of genetics in personalized management of thyroid diseases.
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Registered trials
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.