Systematic Proteomics of Plasma NEFL in C9ORF72-Related Neurodegeneration

Zhen Hu's research dataset from 2026 investigates plasma protein associations with C9ORF72 repeat expansions. It contains proteomic and genetic data from 106 individuals with C9ORF72 expansions and 212 matched controls from the UK Biobank, screening approximately 3,000 proteins. The analysis identifies neurofilament light chain (NEFL) as a key biomarker linked to repeat count and motor neuron disease risk.

Use Cases

• Validate NEFL as a predictive biomarker for motor neuron disease risk based on the reported odds ratio (OR = 2.42) and hazard ratio (HR = 2.90).
• Model the dose-response relationship between C9ORF72 repeat count and plasma protein levels using the described restricted cubic splines analysis.
• Develop machine learning models for disease prediction based on the combination of NEFL levels and genetic repeat count, which achieved an AUC of 0.941.
• Investigate the potential role of secreted NEFL in neuroinflammation pathways as suggested by the findings.

Strengths

• Data is derived from the UK Biobank, a large-scale biomedical database.
• Analysis screened approximately 3,000 plasma proteins for associations.
• Includes 106 cases with C9ORF72 expansions and 212 age- and sex-matched controls.
• Reports specific statistical results, including an FDR-adjusted P-value of 8.39 × 10⁻⁴ for NEFL association.

Limitations

• Row count and column-level documentation are unknown, limiting suitability assessment.
• The dataset is very small at 146.1 KB, indicating limited raw data scope.
• The primary file format is DOCX, which may not be ideal for direct computational analysis.

Provenance

Source

UK Biobank

Collection Method

Whole-genome sequencing and plasma proteomics analysis.

Freshness

Last updated 2026-04-21 05:34:05; freshness should be verified.

Geography

United Kingdom (inferred from UK Biobank source)