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Mendelian Randomization and Transcriptomic Analysis Identify HE4 as a Potential Biomarker for Chronic Obstructive
Clinical Laboratory
|June 15, 2026
Summary
Human epididymis protein 4 (HE4) is linked to higher chronic obstructive pulmonary disease (COPD) risk and shows diagnostic potential. This study confirms HE4’s overexpression in COPD patients, suggesting its use as a biomarker.
Area of Science:
- Genetics and Genomics
- Pulmonology
- Biomarker Discovery
Background:
- Human epididymis protein 4 (HE4) expression is altered in chronic obstructive pulmonary disease (COPD) patients.
- The role of HE4 and other WFDC family members in COPD pathogenesis requires further investigation.
- This study explores WFDC proteins as potential COPD biomarkers using Mendelian randomization and transcriptomic analysis.
Purpose of the Study:
- To investigate the causal relationship between WFDC proteins, particularly HE4, and COPD.
- To evaluate HE4 as a potential diagnostic biomarker for COPD.
- To analyze the expression patterns of WFDC family members in COPD.
Main Methods:
- Mendelian randomization (MR) analysis using GWAS data for WFDC family members and COPD.
- Transcriptomic analysis of COPD-related data from the GEO database.
- Enzyme-linked immunosorbent assay (ELISA) to quantify plasma HE4 levels.
Main Results:
- Elevated HE4 expression was significantly associated with increased COPD risk (OR = 1.10).
- HE4 was overexpressed in lung tissues and plasma of COPD patients.
- HE4 demonstrated diagnostic potential for COPD (AUC = 0.78), unlike other WFDC members studied.
Conclusions:
- Increased HE4 expression is linked to higher COPD risk and its high expression in lung tissue shows promise as a diagnostic biomarker.
- HE4 holds potential for early diagnosis and risk stratification of COPD.
- This research provides insights into WFDC proteins' role in COPD pathogenesis.
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