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Record W4388895835 · doi:10.1101/2023.11.22.23298878

Uncovering the Shared Genetic Components of Thyroid Disorders and Reproductive Health

2023· preprint· en· W4388895835 on OpenAlexaff
Jéssica Figuerêdo, Kristi Krebs, Natàlia Pujol‐Gualdo, Toomas Haller, Urmo Võsa, Vallo Volke, Triin Laisk, Reedik Mägi

Bibliographic record

VenuemedRxiv · 2023
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsEston College
FundersEuropean Regional Development FundEesti TeadusagentuurTartu ÜlikoolEuropean Commission
KeywordsPleiotropyGenome-wide association studyPhenomeBiologyThyroidGenetic associationPhenotypeGeneticsBioinformaticsEvolutionary biologyGeneSingle-nucleotide polymorphismGenotype

Abstract

fetched live from OpenAlex

ABSTRACT Thyroid disorders are complex and polygenic, and thus result from the interaction of many genetic variants. Due to a central role of the thyroid hormones in the body, their dysfunction can have a significant impact on the reproductive health in men and women. Mapping the shared genetic component and relationships between thyroid and reproductive health traits will improve the understanding about the interplay between those domains. Here, a large-scale genetic analysis of thyroid traits (hyper- and hypothyroidism, and thyroid stimulating hormone levels) was conducted in up to 743,088 individuals of European ancestry from various cohorts. We evaluated genetic and phenotypic associations using genome-wide association study (GWAS) meta-analysis, gene prioritisation, genetic correlation analysis, and phenotype vs phenome-wide-association analysis. The results showed that 32% of thyroid-associated genes also had an impact on reproductive phenotypes, with the most affected functions being related to genitourinary tract issues. The study highlights the shared genetic determinants between thyroid function and reproductive health, providing evidence for the genetic pleiotropy between these traits in both men and women.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.005
Threshold uncertainty score0.017

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.003
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.002
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0050.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.030
GPT teacher head0.288
Teacher spread0.258 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2023
Admission routes1
Has abstractyes

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