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.
Claim at a glance
- Type
- clinical association
- Knowledge state
- Emerging
- Evidence certainty
- low (GRADE)
- Evidence
- 2 source(s)
- Answers
- 1 question(s)
- Dates
- 2026-05-31 → 2026-06-12
Structured evidence, machine-compiled — not a verdict.
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) ✓ verified — consistent · case series · 2022 · reading confidence: high
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. [grade capped moderate->low per curated Oxford N4] - Lipedema: Progress, Challenges, and the Road Ahead — Cifarelli (2025) ✓ verified — consistent · review · 2025 · reading confidence: high
“21 variantes deletérias em 12 genes (PLIN1, LIPE, ALDH18A1, PPARG, GHR, INSR, RYR1, NPC1, POMC, NR0B2, GCKR, PPARA) identificadas em 17 desses 162 pacientes”
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 [grade capped moderate->very_low per curated Oxford N6]
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
- 2026-06-12 — disputed evidence reviewed · Human review: synthesis — this source supports the claim's direction; the specific variant(s)/figure(s) it lacks are present in a sibling source (per-claim integrity clean). Accepted.