What does this research mean for the field?

MCEMP1 exhibited high diagnostic ability for myocardial infarction, as confirmed by ROC curve analysis in the GSE61144 datasets. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To identify immune-related candidate diagnostic biomarkers for patients with familial hypercholesterolemia (FHC) complicated by myocardial infarction (MI).

January 10, 2026Frontiers in ImmunologyOpen Access

Identification of immune-related genes in diagnosing hypercholesterolemia with myocardial infarction through bioinformatics analysis

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Key result

MCEMP1 shows high diagnostic ability for MI in preclinical datasets.

Why the study?

Increasing evidence suggests familial hypercholesterolemia exacerbates myocardial infarction, but candidate biomarkers for patients with both conditions needed identification.

Does MCEMP1 expression serve as a diagnostic biomarker for myocardial infarction in patients with familial hypercholesterolemia?

Population

Gene Expression Omnibus datasets GSE48060 and GSE61144, and ApoE-/- mice

Design

Bioinformatics analysis with experimental RT-qPCR validation

Authors

WWWeibin WuFirst Affiliated Hospital of Xiamen University ZPZheng PengJiangnan University YYYi YuFirst Affiliated Hospital of Xiamen University

Discussion

Member takes

Implication

MCEMP1 merits prospective validation as an MI biomarker in FH; hypothesis-generating from Level 5 data and should not yet alter practice.

Key Points

To identify immune-related candidate diagnostic biomarkers for patients with familial hypercholesterolemia (FHC) complicated by myocardial infarction (MI).
Extracted human blood transcriptomic profiles from Gene Expression Omnibus datasets GSE13985 (5 FHC, 5 control), GSE48060 (31 MI, 21 control), and GSE61144 (7 MI, 10 control).
Identified differentially expressed genes (DEGs) via Limma (|log2FC| > 1, p < 0.01) and co-expression modules via Weighted Gene Co-expression Network Analysis (WGCNA), followed by KEGG/GO functional enrichment, protein-protein interaction (PPI) network mapping, and CIBERSORT immune infiltration analysis.
Evaluated diagnostic performance using receiver operating characteristic (ROC) curves in GSE61144 and validated gene expression by RT-qPCR in wild-type and ApoE-/- mice.
Screening identified 656 DEGs in FHC, alongside 956 DEGs and 90 module genes in MI, with 49 overlapping DEGs enriched in immune pathways and immune cell population disturbances.
PPI network analysis identified 13 candidate hub genes, with MCEMP1 emerging as the primary real hub gene at the intersection of candidate hub genes and disease module genes.
ROC curve analysis confirmed high diagnostic efficacy of MCEMP1 for detecting MI in GSE61144, consistent with validated expression patterns observed via RT-qPCR in ApoE-/- mice.

Structured PICO

Does MCEMP1 expression serve as a diagnostic biomarker for myocardial infarction in patients with familial hypercholesterolemia?

Population

Human blood samples from GEO datasets (GSE13985: 5 FHC, 5 control; GSE48060: 31 MI, 21 control; GSE61144: 7 MI, 10 control) and ApoE-/- mice on C57BL/6 background.

Intervention

Bioinformatics analysis (WGCNA, PPI network, CIBERSORT) and RT-qPCR validation of MCEMP1 expression

Comparator

Healthy human controls and Wild-type (WT) C57BL/6 mice

Outcome

Identification and validation of immune-related hub genes (MCEMP1) for diagnosing FHC with MIsurrogate

Bioinformatics analysis and in vivo validation identified MCEMP1 as a key immune-related hub gene and potential diagnostic biomarker for myocardial infarction in familial hypercholesterolemia.

Limitations

Only obtained two gene expression datasets from the GEO database for discovery
Unable to validate findings using external datasets outside of the GEO database
ApoE-/- mouse model has limitations in fully replicating the LDL-driven pathology of FHC
Needs further exploration of pathogenesis via cell experiments and clinical study

Cite This Study

Wu et al. (2026) studied this question. MCEMP1 exhibited high diagnostic ability for myocardial infarction, as confirmed by ROC curve analysis in the GSE61144 datasets.

synapsesocial.com/papers/696321c991e05aa366cb80c2 https://doi.org/10.3389/fimmu.2025.1715216

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Identification of immune-related genes in diagnosing hypercholesterolemia with myocardial infarction through bioinformatics analysis

Discussion

Member takes

Implication

Key Points

Structured PICO

Limitations

Cite This Study

Identification of immune-related genes in diagnosing hypercholesterolemia with myocardial infarction through bioinformatics analysis

Discussion

Member takes

Implication

Key Points

Structured PICO

Limitations

Cite This Study

Also Consider

Also Consider