Identification of biomarkers for chronic lymphocytic leukemia risk: a proteome-wide Mendelian randomization study
2025

Identifying Biomarkers for Chronic Lymphocytic Leukemia Risk

Sample size: 828 publication Evidence: moderate

Author Information

Author(s): Jin Changyu, Lu Zehong, Chen Yuzhan, Hu Huijie, Zhou Miao, Zhang Yanli, Ouyang Guifang, Li Tongyu, Sheng Lixia

Primary Institution: Department of Hematology, The First Affiliated Hospital of Ningbo University

Hypothesis

This study investigates the causal relationship between plasma proteins and chronic lymphocytic leukemia (CLL) risk using Mendelian randomization.

Conclusion

The study identifies nine plasma proteins linked to CLL risk, with PPIE providing new insights into the disease's pathogenesis.

Supporting Evidence

  • Increased levels of PPIE were associated with a higher risk of developing CLL.
  • POMGNT2 and CCL14 were associated with a reduced risk of CLL.
  • Colocalization analysis suggested that PPIE may share pathogenic variants with CLL.
  • Phenomenon-wide MR analysis indicated associations of PPIE with other clinical features.
  • Protein–protein interaction analysis highlighted CDC5L and SNW1 as potential therapeutic targets.

Takeaway

Researchers looked at proteins in the blood to see if they can help predict who might get chronic lymphocytic leukemia, finding some proteins that could be important.

Methodology

A two-sample Mendelian randomization analysis was conducted using data from the Finngen Proteomics project and the UK Biobank.

Potential Biases

Potential selection bias due to the focus on specific populations and the hypothesis-based nature of the genomic methods used.

Limitations

The study's proteomic analysis is limited to pQTL data from individuals of European ancestry, which may introduce bias for non-European populations.

Participant Demographics

Participants were from the Finngen study, which includes a large-scale genomics initiative analyzing Finnish biobank samples.

Statistical Information

P-Value

0.001

Confidence Interval

95% CI 1.22–2.27

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1007/s12672-024-01699-2

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