Table 1_Genetic burden across core genes of the PI3K–AKT–mTOR pathway is associated with s

A 2026 genetic association study from a Chinese cohort investigates the link between single nucleotide polymorphisms in the PI3K-AKT-mTOR pathway and susceptibility to microscopic polyangiitis. The dataset, authored by Lizhen Li and shared under CC-BY-4.0, includes analysis of four SNPs across PIK3CA, AKT1, and MTOR genes, with results showing a pathway-level genetic burden associated with increased disease risk.

Use Cases

• Assessing genetic susceptibility to microscopic polyangiitis based on cumulative risk allele burden scores.
• Investigating potential sex-related differences in genetic associations with autoimmune disease.
• Analyzing haplotype frequencies across PIK3CA, AKT1, and MTOR genes for protective or risk effects.
• Studying the relationship between pathway-level genetic variation and MPO-ANCA positivity status.

Strengths

• Focuses on a specific biological pathway (PI3K-AKT-mTOR) with clear relevance to immune regulation.
• Includes sensitivity analyses restricted to hospital-based controls, which may strengthen internal validity.
• Dataset is openly shared under a permissive CC-BY-4.0 license, facilitating reuse.

Limitations

• Row count is unknown, which may limit suitability assessment for large-scale analyses.
• Column-level documentation is absent; field semantics must be inferred after download.
• The description notes findings require validation in larger and independent cohorts, indicating limited generalizability.

Provenance

Source

figshare, author Lizhen Li.

Collection Method

Genetic association study conducted in a Chinese cohort including MPA patients and controls.

Freshness

Last updated 2026-04-23 05:35:35; freshness should be verified.

Geography

Chinese cohort.