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pmid:39131703

Exploring the common mechanisms and biomarker ST8SIA4 of atherosclerosis and ankylosing spondylitis through bioinformatics analysis and machine learning.

Yirong Ma · Junyu Lai · Qiang Wan · Liqiang Sun · Yang Wang · Xingliang Li · Qinhe Zhang · Jianguang Wu

Frontiers in cardiovascular medicine · 2024 doi:10.3389/fcvm.2024.1421071

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Experiment

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Data

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title
Exploring the common mechanisms and biomarker ST8SIA4 of atherosclerosis and ankylosing spondylitis through bioinformatics analysis and machine learning.
doi
10.3389/fcvm.2024.1421071
pmid
39131703
authors array · 8 items
[0]
Yirong Ma
[1]
Junyu Lai
[2]
Qiang Wan
[3]
Liqiang Sun
[4]
Yang Wang
[5]
Xingliang Li
[6]
Qinhe Zhang
[7]
Jianguang Wu
journal
Frontiers in cardiovascular medicine
year
2024
abstract
Background: Atherosclerosis (AS) is a major contributor to cerebrovascular and cardiovascular events. There is growing evidence that ankylosing spondylitis is closely linked to AS, often co-occurring with it; however, the shared pathogenic mechanisms between the two conditions are not well understood. This study employs bioinformatics approaches to identify common biomarkers and pathways between AS and ankylosing spondylitis. Methods: Gene expression datasets for AS (GSE100927, GSE28829, GSE155512) and ankylosing spondylitis (GSE73754, GSE25101) were obtained from the Gene Expression Omnibus (GEO). Differential expression genes (DEGs) and module genes for AS and ankylosing spondylitis were identified using the Limma R package and weighted gene co-expression network analysis (WGCNA) techniques, respectively. The machine learning algorithm SVM-RFE was applied to pinpoint promising biomarkers, which were then validated in terms of their expression levels and diagnostic efficacy in AS and ankylosing spondylitis, using two separate GEO datasets. Furthermore, the interaction of the key biomarker with the immune microenvironment was investigated via the CIBERSORT algorithm, single-cell analysis was used to identify the locations of common diagnostic markers. Results: The dataset GSE100927 contains 524 DEGs associated with AS, whereas dataset GSE73754 includes 1,384 genes categorized into modules specific to ankylosing spondylitis. Analysis of these datasets revealed an overlap of 71 genes between the DEGs of AS and the modular genes of ankylosing spondylitis. Utilizing the SVM-RFE algorithm, 15 and 24 central diagnostic genes were identified in datasets GSE100927 and GSE73754, respectively. Further validation of six key genes using external datasets confirmed ST8SIA4 as a common diagnostic marker for both conditions. Notably, ST8SIA4 is upregulated in samples from both diseases. Additionally, ROC analysis confirmed the robust diagnostic utility of ST8SIA4. Moreover, analysis through CIBERSORT suggested an association of the ST8SIA4 gene with the immune microenvironment in both disease contexts. Single-cell analysis revealed that ST8SIA4 is primarily expressed in Macrophages, Monocytes, T cells, and CMPs. Conclusion: This study investigates the role of ST8SIA4 as a common diagnostic gene and the involvement of the lysosomal pathway in both AS and ankylosing spondylitis. The findings may yield potential diagnostic biomarkers and offer new insights into the shared pathogenic mechanisms underlying these conditions.
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To pinpoint potential diagnostic markers for AS with ankylosing spondylitis, we utilized the Support Vector Machine Recursive Feature Elimination (SVM-RFE) technique.
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To pinpoint potential diagnostic markers for AS with ankylosing spondylitis, we utilized the Support Vector Machine Recursive Feature Elimination (SVM-RFE) technique.
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Further validation of six key genes using external datasets confirmed ST8SIA4 as a common diagnostic marker for both conditions.
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Further validation of six key genes using external datasets confirmed ST8SIA4 as a common diagnostic marker for both conditions.
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sections[15] "Identification and validation of potential shared diagnostic biomarkers" paragraph 2
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Furthermore, ROC analysis demonstrated significant diagnostic efficacy of ST8SIA4, with AUC values of 0.976 in GSE100927 and 0.773 in GSE73754 (Figures 6F,H). In further independent analyses, ST8SIA4 demonstrated significant diagnostic effectiveness in datasets GSE28829 and GSE25101, achieving AUC values of 0.846 and 0.812, respectively (Figures 6E,G).
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To pinpoint potential diagnostic markers for AS with ankylosing spondylitis, we utilized the Support Vector Machine Recursive Feature Elimination (SVM-RFE) technique.
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assay_families array · 9 items
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meta_analysis
[1]
machine_learning
[2]
survival_analysis
[3]
statistical_regression
[4]
pca
[5]
molecular_docking
[6]
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[7]
differential_expression
[8]
gwas
candidate
Automated Assays Laravel application and simulated adapters
gaps array · 0 items
readiness object · 8 fields
state
complete
tier
R1
blocked_on
nothing:replicable_now
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tier
R1
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true
required_operations array · 3 items
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train_classifier
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cross_validate
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roc_auc
missing_operations array · 0 items
basis
The paper names the method it used and the corpus's method extractor maps it onto the DSL catalogue: support_vector_machine.
capability object · 4 fields
tier
R1
capability_id
capability:computational_analysis
availability_state
owned
basis
The computational analysis is owned. The physical bench the paper used is not, so a physical validation cannot be run here.
data object · 6 fields
tier
R1
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true
accessions array · 5 items
[0]
GSE100927
[1]
GSE73754
[2]
GSE28829
[3]
GSE25101
[4]
GSE155512
resolved_accessions array · 5 items
[0]
GSE100927
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GSE73754
[2]
GSE28829
[3]
GSE25101
[4]
GSE155512
statements array · 1 item
[0]
The original contributions presented in the study are included in the article/Supplementary Material, further inquiries can be directed to the corresponding author.
basis
The paper names GSE100927, GSE73754, GSE28829, GSE25101, GSE155512 in Gene Expression Omnibus (GEO) and the accession resolves in the repository. No dataset was downloaded and no licence was read.
can_run object · 3 fields
dsl_operations array · 3 items
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train_classifier
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cross_validate
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roc_auc
assets array · 2 items
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source:pmid:39131703
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data:geo:GSE100927
steps array · 1 item
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run_analysis
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dsl_operations array · 0 items
converters array · 0 items
readers array · 0 items
capabilities array · 0 items
data_gaps array · 1 item
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data:geo:GSE100927
gaps array · 0 items
review object · 5 fields
state
partial
machine_critique object · 5 fields
kind
extraction_review
reader object · 5 fields
model
MiniMax-M3.1-Flash
provider
minimax
provider_family
minimax
read_at
2026-11-01T19:27:29Z
independence
single_reader
evidence_check object · 2 fields
method
verbatim
availability
verbatim
calls
5
usage object · 3 fields
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15093
completion_tokens
1748
cached_tokens
128
stages array · 1 item
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id
extraction
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review.machine_critique
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review.human_critique
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gaps array · 1 item
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execution.not_run
provenance object · 7 fields
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pmid:39131703
type
paper
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pmid:39131703
[1] object · 3 fields
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source:pmid:39131703
type
manuscript
label
PMID 39131703 full text
[2] object · 3 fields
id
data:geo:GSE100927
type
dataset
label
GEO GSE100927
activities array · 3 items
[0] object · 4 fields
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activity-reading-sci-2026-11-01
type
classification
used array · 3 items
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pmid:39131703
type
paper
label
pmid:39131703
[1] object · 3 fields
id
source:pmid:39131703
type
manuscript
label
PMID 39131703 full text
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id
data:geo:GSE100927
type
dataset
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GEO GSE100927
agent
agent:corpus-assay-engine
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id
activity-read-39131703
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extraction
used array · 1 item
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source:pmid:39131703
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agent:minimax-reader
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activity-resolve-GSE100927
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used array · 1 item
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data:geo:GSE100927
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agent:corpus-assay-engine
agents array · 2 items
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agent:corpus-assay-engine
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software
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Corpus assay engine
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agent:minimax-reader
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software
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dsl_catalogue_fingerprint
343fb30756ba6ec3
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lineage object · 4 fields
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pmid:39131703
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[3]
asset:data:geo:GSE155512 not downloaded
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asset:data:geo:GSE25101 licence not read
[5]
asset:data:geo:GSE25101 not downloaded
[6]
asset:data:geo:GSE28829 licence not read
[7]
asset:data:geo:GSE28829 not downloaded
[8]
asset:data:geo:GSE73754 licence not read
[9]
asset:data:geo:GSE73754 not downloaded
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assays array · 3 items
[0] object · 11 fields
role
data_generation
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microarray
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99e1195c7d6f
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assay_lexicon
99e1195c7d6f
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0.93
evidence array · 1 item
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osclerosis” and “ankylosing spondylitis” for microarray datasets. To ensure the accuracy of WGCNA, w
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paper_text_order:2898
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[1] object · 11 fields
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data_generation
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sequently, these cells were analyzed through RNA sequencing. Supplementary material The Supplementary Ma
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paper_text_order:4251
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f2132e96ae6c7a4e
evidence array · 1 item
[0]
To pinpoint potential diagnostic markers for AS with ankylosing spondylitis, we utilized the Support Vector Machine Recursive Feature Elimination (SVM-RFE) technique.
order_basis
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Complete file
{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:39131703", "kind": "science-record", "revision": 4, "content_hash": "sha256:8bfe11ca6d3416efe1ccf879f9a102c58c64852d3d58a2181492b156f8f04946", "created_at": "2026-11-01T20:29:13Z", "updated_at": "2026-11-01T22:54:55Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Exploring the common mechanisms and biomarker ST8SIA4 of atherosclerosis and ankylosing spondylitis through bioinformatics analysis and machine learning.", "doi": "10.3389/fcvm.2024.1421071", "pmid": "39131703", "authors": ["Yirong Ma", "Junyu Lai", "Qiang Wan", "Liqiang Sun", "Yang Wang", "Xingliang Li", "Qinhe Zhang", "Jianguang Wu"], "journal": "Frontiers in cardiovascular medicine", "year": 2024, "abstract": "Background: Atherosclerosis (AS) is a major contributor to cerebrovascular and cardiovascular events. There is growing evidence that ankylosing spondylitis is closely linked to AS, often co-occurring with it; however, the shared pathogenic mechanisms between the two conditions are not well understood. This study employs bioinformatics approaches to identify common biomarkers and pathways between AS and ankylosing spondylitis.\nMethods: Gene expression datasets for AS (GSE100927, GSE28829, GSE155512) and ankylosing spondylitis (GSE73754, GSE25101) were obtained from the Gene Expression Omnibus (GEO). Differential expression genes (DEGs) and module genes for AS and ankylosing spondylitis were identified using the Limma R package and weighted gene co-expression network analysis (WGCNA) techniques, respectively. The machine learning algorithm SVM-RFE was applied to pinpoint promising biomarkers, which were then validated in terms of their expression levels and diagnostic efficacy in AS and ankylosing spondylitis, using two separate GEO datasets. Furthermore, the interaction of the key biomarker with the immune microenvironment was investigated via the CIBERSORT algorithm, single-cell analysis was used to identify the locations of common diagnostic markers.\nResults: The dataset GSE100927 contains 524 DEGs associated with AS, whereas dataset GSE73754 includes 1,384 genes categorized into modules specific to ankylosing spondylitis. Analysis of these datasets revealed an overlap of 71 genes between the DEGs of AS and the modular genes of ankylosing spondylitis. Utilizing the SVM-RFE algorithm, 15 and 24 central diagnostic genes were identified in datasets GSE100927 and GSE73754, respectively. Further validation of six key genes using external datasets confirmed ST8SIA4 as a common diagnostic marker for both conditions. Notably, ST8SIA4 is upregulated in samples from both diseases. Additionally, ROC analysis confirmed the robust diagnostic utility of ST8SIA4. Moreover, analysis through CIBERSORT suggested an association of the ST8SIA4 gene with the immune microenvironment in both disease contexts. Single-cell analysis revealed that ST8SIA4 is primarily expressed in Macrophages, Monocytes, T cells, and CMPs.\nConclusion: This study investigates the role of ST8SIA4 as a common diagnostic gene and the involvement of the lysosomal pathway in both AS and ankylosing spondylitis. The findings may yield potential diagnostic biomarkers and offer new insights into the shared pathogenic mechanisms underlying these conditions.", "claims": [{"id": "claim-method", "statement": "To pinpoint potential diagnostic markers for AS with ankylosing spondylitis, we utilized the Support Vector Machine Recursive Feature Elimination (SVM-RFE) technique.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:39131703", "locator": "sections[7] \"Identification and verification of diagnostic biomarkers\" paragraph 2", "quote": "To pinpoint potential diagnostic markers for AS with ankylosing spondylitis, we utilized the Support Vector Machine Recursive Feature Elimination (SVM-RFE) technique."}], "state": "complete"}, {"id": "claim-data-access", "statement": "The original contributions presented in the study are included in the article/Supplementary Material, further inquiries can be directed to the corresponding author.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:39131703", "locator": "sections[23] \"Data availability statement\" paragraph 2", "quote": "The original contributions presented in the study are included in the article/Supplementary Material, further inquiries can be directed to the corresponding author."}], "state": "complete"}, {"id": "claim-target-result", "statement": "Further validation of six key genes using external datasets confirmed ST8SIA4 as a common diagnostic marker for both conditions.", "kind": "qualitative", "target": null, "evidence": [{"asset": "source:pmid:39131703", "locator": "sections[0] \"Abstract\" paragraph 3", "quote": "Further validation of six key genes using external datasets confirmed ST8SIA4 as a common diagnostic marker for both conditions."}, {"asset": "source:pmid:39131703", "locator": "sections[15] \"Identification and validation of potential shared diagnostic biomarkers\" paragraph 2", "quote": "Furthermore, ROC analysis demonstrated significant diagnostic efficacy of ST8SIA4, with AUC values of 0.976 in GSE100927 and 0.773 in GSE73754 (Figures 6F,H). In further independent analyses, ST8SIA4 demonstrated significant diagnostic effectiveness in datasets GSE28829 and GSE25101, achieving AUC values of 0.846 and 0.812, respectively (Figures 6E,G)."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "complete", "objective": "Further validation of six key genes using external datasets confirmed ST8SIA4 as a common diagnostic marker for both conditions.", "steps": [{"id": "read_published_estimate", "order": 1, "name": "Read the published estimate from the source", "kind": "other", "state": "complete", "blocked_on": null, "description": "The claim, method and evidence span published with the source article.", "duration_hours": null, "parameters": {}, "inputs": ["source:pmid:39131703"], "outputs": ["the published estimate and its evidence"], "instruments": [], "reagents": []}, {"id": "obtain_source_data", "order": 2, "name": "Obtain the source data from the named repository", "kind": "data-preparation", "state": "complete", "blocked_on": null, "description": "The GEO series accession resolves and its sample accessions are listed. This lane did not download the dataset or read its licence.", "duration_hours": null, "parameters": {}, "inputs": ["data:geo:GSE100927"], "outputs": ["the source data with its repository provenance"], "instruments": [], "reagents": []}, {"id": "run_analysis", "order": 3, "name": "Run the published analysis", "kind": "analysis", "state": "complete", "blocked_on": null, "description": "Apply the paper's statistical method to the resolved series and compare the result with the published target.", "duration_hours": null, "parameters": {}, "inputs": ["data:geo:GSE100927"], "outputs": ["the replicated result and its comparison"], "instruments": [], "reagents": []}], "materials": [], "instruments": [], "reagents": [], "conditions": {}, "gaps": []}, "data": {"state": "partial", "assets": [{"id": "source:pmid:39131703", "role": "manuscript", "format": "xml", "media_type": "application/xml", "uri": "https://doi.org/10.3389/fcvm.2024.1421071", "sha256": 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