Plasma Proteomics Data for C9ORF72-Related Neurodegeneration from UK Biobank

106 individuals with C9ORF72 expansions and 212 matched controls from the UK Biobank were analyzed for plasma proteomics. The dataset contains results from a screen of approximately 3,000 proteins, identifying NEFL as a key biomarker. It was authored by Zhen Hu and last updated on 2026-04-21.

Use Cases

• Validate the association between NEFL levels and C9ORF72 repeat count based on the proteome-wide screen results.
• Build predictive models for motor neuron disease risk using the reported NEFL levels and repeat count data.
• Investigate the linear dose-response relationship between plasma protein levels and genetic expansion size described in the study.

Strengths

• Includes data from 318 individuals (106 cases, 212 controls) from the UK Biobank.
• Proteomics screen covers approximately 3,000 plasma proteins.
• Results are supported by specific statistical metrics (e.g., FDR-adjusted P = 8.39 × 10⁻⁴, AUC of 0.941).

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data may reflect geographic/temporal bias inherent to the UK Biobank source.

Provenance

Source

UK Biobank

Collection Method

Whole-genome sequencing and plasma proteomics analysis.

Freshness

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

Geography

United Kingdom (inferred from UK Biobank)