Evidence mapPaperPMID 41277170Full record

ArticleBrain and behavior2025

Comprehensive Genome-Wide Analysis of Shared Genetic Factors in Gastrointestinal and Neurodegenerative Diseases.

Yan Jiang, Yuxiang Zhang, Lei Ma, Chao Li

Abstract read
In one paragraph

Article in Brain and behavior, 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. 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

4 authors.

Yan JiangLaboratory Medicine Diagnostic Centre, The First Affiliated Hospital, Xinjiang Medical University, Urumqi, Xinjiang, China.
Yuxiang ZhangDepartment Laboratory, The Six Affiliated Hospital, Xinjiang Medical University, Urumqi, Xinjiang, China.
Lei MaLaboratory Medicine Diagnostic Centre, The First Affiliated Hospital, Xinjiang Medical University, Urumqi, Xinjiang, China.
Chao LiLaboratory Medicine Diagnostic Centre, The First Affiliated Hospital, Xinjiang Medical University, Urumqi, Xinjiang, China.

Funding

Third Batch of "Tianshan Talent" High-Level Medical and Health Personnel Project TSYC202401B119
6 · The paper itself

Abstract

backgroundThis study investigates the shared genetic basis between gastrointestinal (GI) diseases and neurodegenerative diseases (ND) using genome-wide association study (GWAS) data and statistical genetic methods.

methodsGWAS data, primarily from European populations, covered four types of GI diseases and three types of ND. Genetic correlations were assessed using Linkage Disequilibrium Score Regression (LDSC), High-Definition Likelihood (HDL), and Local Analysis of Covariant Annotation (LAVA). Pleiotropic and functional genetic overlaps were explored using the Genomic Partitioning Approach (GPA), pleiotropic analysis under the composite null hypothesis (PLACO), and Functional Mapping and Annotation of Genetic Associations (FUMA). Multi-marker analysis of genomic annotation (MAGMA) was used for biological annotation and enrichment analysis, while summary data-based Mendelian randomization (SMR) analysis linked pleiotropic genes with gene expression. Two-sample Mendelian randomization (TSMR) investigated potential causal relationships.

resultsSignificant genetic correlations and shared genetic features were identified. The research identified 1,457 pleiotropic single nucleotide variants(SNVs) distributed across 47 chromosomal regions and 74pleiotropic genes, predominantly involved in pathways related tosignal transduction, amyloid regulation, and lipid metabolism. Nine colocalization loci (PPH4 > 0.8) were identified, while SMR analysis linked 26 pleiotropic genes to disease expression levels. Key genes, including EP300, CHRNB1, KNOP1, P2RY14, and POLR2A, were significantly associated with both disease types. Drug-gene interaction analysis highlighted 8 genes with drug targets, among which EP300, PRKCB, VKORC1, and CHRNB1 were found to anchor enriched pathways including purinergic signaling, amyloid/protein aggregation, and cholesterol/lipoprotein transport. Mendelian randomization corroborated possible causal association.

conclusionThis study confirms a shared genetic basis between GI and ND, emphasizing the gut-brain axis in their etiology. These findings offer clues about shared pathways, potential therapeutic targets, and future research directions.

Indexed as

Gastrointestinal DiseasesNeurodegenerative DiseasesGenetic PleiotropyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMendelian Randomization AnalysisPolymorphism, Single Nucleotideamyotrophic lateral sclerosisgastrointestinal diseasesgenetic relatednessgenome‐wide association studyMendelian randomizationneurodegenerative diseases

Identifiers

PMID41277170
PMCPMC12641108

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.