Evidence map›Paper›PMID 41465179›Full record

SynthesisGenes2025

Insights into the Genetic and Epigenetic Landscape of Endocrine Autoimmunity: A Systematic Review.

Gerdi Tuli, Jessica Munarin, Katherine Stephanie Davalos Flores, Luisa De Sanctis

Abstract readSystematic Review
In one paragraph

Synthesis in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Review
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

4 authors.

Gerdi TuliDepartment of Pediatric Endocrinology, Regina Margherita Children's Hospital, 10124 Turin, Italy.ORCID 0000-0001-5862-8958
Jessica MunarinDepartment of Pediatric Endocrinology, Regina Margherita Children's Hospital, 10124 Turin, Italy.
Katherine Stephanie Davalos FloresDepartment of Pediatric Endocrinology, Regina Margherita Children's Hospital, 10124 Turin, Italy.
Luisa De SanctisDepartment of Pediatric Endocrinology, Regina Margherita Children's Hospital, 10124 Turin, Italy.ORCID 0000-0003-2113-6196

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesEndocrine autoimmune diseases, including autoimmune thyroid, pituitary, parathyroid, adrenal, and gonadal diseases, result from complex interactions between genetic susceptibility and environmental triggers. Advances in genomics and epigenomics have provided novel insights into the molecular pathways leading to immune dysregulation and endocrine tissue destruction. This review summarizes recent progress in understanding the genetic and epigenetic bases, emphasizing shared and disease-specific mechanisms that contribute to autoimmunity and endocrine dysfunction.

methodsA comprehensive literature search was performed in PubMed, Scopus, and Web of Science up to August 2025, focusing on genome-wide association studies (GWAS), next-generation sequencing, and epigenetic profiling (DNA methylation, histone modification, and non-coding RNA regulation).

resultsMore than 60 susceptibility loci have been identified across endocrine autoimmune diseases (EADs), including key genes in immune tolerance (HLA, CTLA4, PTPN22) and endocrine-specific pathways. Epigenetic studies reveal that altered DNA methylation and histone acetylation patterns in immune and endocrine cells modulate gene expression without changing the DNA sequence, linking environmental exposures to disease onset. Dysregulated microRNAs further influence immune signaling and cytokine networks.

conclusionsGenetic and epigenetic discoveries highlight the multifactorial nature of EADs and reveal potential biomarkers for early detection and targets for precision immunotherapy. Future research integrating multi-omics and longitudinal analyses will be crucial to unravel causal mechanisms and develop personalized preventive strategies.

Indexed as

Autoimmune DiseasesAutoimmunityEndocrine System DiseasesEpigenesis, GeneticDNA MethylationGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansadrenalendocrine autoimmune diseasesepigeneticsgeneticsgonadalparathyroidpituitarythyroid

Identifiers

PMID41465179
PMCPMC12733152

What Socratic holds

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LicenceCC BY
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Registered trials

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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 Socratic graph.