SCR-LIP-000216 · Claim · machine-readable JSON →
A 305-gene NGS panel applied to 162 lipedema patients identified 21 heterozygous deleterious variants in 17 patients (10.5%) across 12 genes (PLIN1, LIPE, PPARG, POMC, NR0B2, GCKR, NPC1, ALDH18A1, GHR, INSR, RYR1, PPARA), most involved in steroidogenesis, lipid homeostasis, and insulin signaling, including PLIN1 c.722T>C linked to familial partial lipodystrophy type 4.
Created: 2026-05-31 · Last updated: 2026-05-31
Auto-compiled by the Layer 1 surveillance loop; not yet human-reviewed. anthropic/claude-opus-4.8 · 2026-05-31
Evidence over time
Evidence (2)
- A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy — Michelini et al. (2022) — supporting · case series · 2022
The article directly identifies specific genetic variants in candidate genes from a lipedema patient cohort using NGS, directly addressing the question on genetic variants in lipedema. - Lipedema: Progress, Challenges, and the Road Ahead — Cifarelli (2025) — supporting · review · 2025
The article directly summarizes specific genetic variants, candidate genes, GWAS risk loci, and monogenic mutations associated with lipedema, directly addressing the question. As a narrative review synthesizing primary studies, confidence i
Context (PECO)
Answers these questions
Gaps & caveats
Auto-ingested single source; not yet human-reviewed.
Change log
- 2026-05-31 — created · auto-ingested for SQ-LIP-000025
- 2026-05-31 — evidence added · corroborated by DOI:10.1111/obr.13953