Comparative analysis of differentially expressed genes in breast cancer across Asian and European populations: insights into molecular pathways and biomarkers

Aim: Breast cancer (BC) is the most common malignancy among women and a leading cause of cancer-related mortality. Early detection and prediction are crucial for prognosis and targeted therapy selection. This study investigates differences in BC gene expression between European and Asian populations...

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Main Authors: Prabhu Meganathan, Sharvari Sawant, Shreshta Reddy
Format: Article
Language:English
Published: Open Exploration Publishing Inc. 2025-05-01
Series:Exploration of Medicine
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Online Access:https://www.explorationpub.com/uploads/Article/A1001320/1001320.pdf
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author Prabhu Meganathan
Sharvari Sawant
Shreshta Reddy
author_facet Prabhu Meganathan
Sharvari Sawant
Shreshta Reddy
author_sort Prabhu Meganathan
collection DOAJ
description Aim: Breast cancer (BC) is the most common malignancy among women and a leading cause of cancer-related mortality. Early detection and prediction are crucial for prognosis and targeted therapy selection. This study investigates differences in BC gene expression between European and Asian populations by analysing differentially expressed genes (DEGs) and identifying potential biomarkers for diagnosis and treatment. Methods: This study analyzed gene expression datasets from the NCBI Gene Expression Omnibus (GEO), including GSE15852 (Malaysia), GSE29044 (Saudi Arabia), GSE89116 (India), GSE61304 (Singapore), GSE29431 (Spain), GSE21422 (Germany), and GSE42568 (Ireland). DEGs were identified using GEO2R, with significance thresholds set at p < 0.05 and logFC > 2.0. Protein-protein interaction (PPI) networks were constructed using STRING and analyzed in Cytoscape, helping in identification of highly upregulated biomarker (HUB) genes. Functional enrichment was conducted using Enrichr-KG and GeneMANIA to explore pathway associations. Results: Two common HUB genes, cluster of differentiation 36 (CD36) and leptin (LEP), were identified across five datasets, suggesting their universal relevance in BC. Additionally, caveolin-1 (CAV1) and perilipin 1 (PLIN1) were significant in the Asian datasets, while CAV1, insulin-like growth factor 1 (IGF1), apolipoprotein B (APOB), and peroxisome proliferator-activated receptor gamma (PPARG) were HUB genes in European datasets. Functional pathway analysis revealed that these genes are primarily involved in cholesterol metabolism, adipocytokine signaling, AMP-activated protein kinase (AMPK) regulation, and fatty acid metabolism, highlighting their role in BC progression. Conclusions: CD36 and LEP are universal biomarkers with potential diagnostic and prognostic significance in BC. Region-specific HUB genes emphasize the need for precision medicine in treatment. Their role in cholesterol metabolism and adipocytokine signaling suggests potential therapeutic targets. CD36 and LEP could be used in liquid biopsy screening, and their metabolic function supports further investigation into CD36 inhibitors, LEP antagonists, and PPARG modulators. Future studies should focus on large-scale validation and multi-omics approaches for personalized BC management.
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spelling doaj-art-1a3aa1ed92e443c2bbd652d0f3428a952025-08-20T03:08:47ZengOpen Exploration Publishing Inc.Exploration of Medicine2692-31062025-05-016100132010.37349/emed.2025.1001320Comparative analysis of differentially expressed genes in breast cancer across Asian and European populations: insights into molecular pathways and biomarkersPrabhu Meganathan0https://orcid.org/0000-0003-3171-6899Sharvari Sawant1https://orcid.org/0009-0001-8330-7598Shreshta Reddy2https://orcid.org/0009-0004-8314-4196Hybrinomics Medical Innovations Private Limited, Bengaluru 560077, Karnataka, IndiaHybrinomics Medical Innovations Private Limited, Bengaluru 560077, Karnataka, IndiaHybrinomics Medical Innovations Private Limited, Bengaluru 560077, Karnataka, IndiaAim: Breast cancer (BC) is the most common malignancy among women and a leading cause of cancer-related mortality. Early detection and prediction are crucial for prognosis and targeted therapy selection. This study investigates differences in BC gene expression between European and Asian populations by analysing differentially expressed genes (DEGs) and identifying potential biomarkers for diagnosis and treatment. Methods: This study analyzed gene expression datasets from the NCBI Gene Expression Omnibus (GEO), including GSE15852 (Malaysia), GSE29044 (Saudi Arabia), GSE89116 (India), GSE61304 (Singapore), GSE29431 (Spain), GSE21422 (Germany), and GSE42568 (Ireland). DEGs were identified using GEO2R, with significance thresholds set at p < 0.05 and logFC > 2.0. Protein-protein interaction (PPI) networks were constructed using STRING and analyzed in Cytoscape, helping in identification of highly upregulated biomarker (HUB) genes. Functional enrichment was conducted using Enrichr-KG and GeneMANIA to explore pathway associations. Results: Two common HUB genes, cluster of differentiation 36 (CD36) and leptin (LEP), were identified across five datasets, suggesting their universal relevance in BC. Additionally, caveolin-1 (CAV1) and perilipin 1 (PLIN1) were significant in the Asian datasets, while CAV1, insulin-like growth factor 1 (IGF1), apolipoprotein B (APOB), and peroxisome proliferator-activated receptor gamma (PPARG) were HUB genes in European datasets. Functional pathway analysis revealed that these genes are primarily involved in cholesterol metabolism, adipocytokine signaling, AMP-activated protein kinase (AMPK) regulation, and fatty acid metabolism, highlighting their role in BC progression. Conclusions: CD36 and LEP are universal biomarkers with potential diagnostic and prognostic significance in BC. Region-specific HUB genes emphasize the need for precision medicine in treatment. Their role in cholesterol metabolism and adipocytokine signaling suggests potential therapeutic targets. CD36 and LEP could be used in liquid biopsy screening, and their metabolic function supports further investigation into CD36 inhibitors, LEP antagonists, and PPARG modulators. Future studies should focus on large-scale validation and multi-omics approaches for personalized BC management.https://www.explorationpub.com/uploads/Article/A1001320/1001320.pdfbreast cancerdifferentially expressed genes (degs)asianeuropeanbiomarkershighly upregulated biomarker (hub) genes
spellingShingle Prabhu Meganathan
Sharvari Sawant
Shreshta Reddy
Comparative analysis of differentially expressed genes in breast cancer across Asian and European populations: insights into molecular pathways and biomarkers
Exploration of Medicine
breast cancer
differentially expressed genes (degs)
asian
european
biomarkers
highly upregulated biomarker (hub) genes
title Comparative analysis of differentially expressed genes in breast cancer across Asian and European populations: insights into molecular pathways and biomarkers
title_full Comparative analysis of differentially expressed genes in breast cancer across Asian and European populations: insights into molecular pathways and biomarkers
title_fullStr Comparative analysis of differentially expressed genes in breast cancer across Asian and European populations: insights into molecular pathways and biomarkers
title_full_unstemmed Comparative analysis of differentially expressed genes in breast cancer across Asian and European populations: insights into molecular pathways and biomarkers
title_short Comparative analysis of differentially expressed genes in breast cancer across Asian and European populations: insights into molecular pathways and biomarkers
title_sort comparative analysis of differentially expressed genes in breast cancer across asian and european populations insights into molecular pathways and biomarkers
topic breast cancer
differentially expressed genes (degs)
asian
european
biomarkers
highly upregulated biomarker (hub) genes
url https://www.explorationpub.com/uploads/Article/A1001320/1001320.pdf
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AT sharvarisawant comparativeanalysisofdifferentiallyexpressedgenesinbreastcanceracrossasianandeuropeanpopulationsinsightsintomolecularpathwaysandbiomarkers
AT shreshtareddy comparativeanalysisofdifferentiallyexpressedgenesinbreastcanceracrossasianandeuropeanpopulationsinsightsintomolecularpathwaysandbiomarkers