{
  "id": "SCR-LIP-000216",
  "statement": "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.",
  "statement_pt": "Um painel NGS de 305 genes aplicado a 162 pacientes com lipedema identificou 21 variantes deletérias heterozigóticas em 17 pacientes (10,5%) em 12 genes (PLIN1, LIPE, PPARG, POMC, NR0B2, GCKR, NPC1, ALDH18A1, GHR, INSR, RYR1, PPARA), a maioria envolvida em esteroidogênese, homeostase lipídica e sinalização de insulina, incluindo PLIN1 c.722T>C associado à lipodistrofia parcial familiar tipo 4.",
  "claim_type": "clinical_association",
  "context": {
    "population": "—",
    "condition": "lipedema",
    "exposure": "—",
    "comparator": "—",
    "outcome": "—",
    "scope": "auto-ingested from Layer 1 surveillance"
  },
  "knowledge_state": "emerging",
  "evidence_confidence": "moderate",
  "evidence": [
    {
      "ref": "DOI:10.3390/jpm12020268",
      "stance": "supporting",
      "study_design": "case_series",
      "n": null,
      "risk_of_bias": "unknown",
      "grade": "low",
      "year": 2022,
      "amato_authored": false,
      "note": "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]",
      "title": "A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy",
      "authors": "Michelini et al.",
      "journal": "Journal of Personalized Medicine",
      "_prov": {
        "grade_source": "bib_curated"
      }
    },
    {
      "ref": "DOI:10.1111/obr.13953",
      "stance": "supporting",
      "study_design": "review",
      "n": null,
      "risk_of_bias": "unknown",
      "grade": "very_low",
      "year": 2025,
      "amato_authored": false,
      "note": "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]",
      "title": "Lipedema: Progress, Challenges, and the Road Ahead",
      "authors": "Cifarelli",
      "journal": "Obesity Reviews",
      "_prov": {
        "grade_source": "bib_curated"
      }
    }
  ],
  "relations": [],
  "gaps": "Auto-ingested single source; not yet human-reviewed.",
  "primary_amato_source": null,
  "curators": [],
  "provenance": {
    "auto": true,
    "engine": "anthropic/claude-opus-4.8",
    "question": "SQ-LIP-000025",
    "source": "library",
    "ingested": "2026-05-31"
  },
  "created": "2026-05-31",
  "updated": "2026-05-31",
  "history": [
    {
      "date": "2026-05-31",
      "event": "created",
      "detail": "auto-ingested for SQ-LIP-000025"
    },
    {
      "date": "2026-05-31",
      "event": "evidence added",
      "detail": "corroborated by DOI:10.1111/obr.13953"
    }
  ],
  "license": "CC-BY-4.0",
  "answers_questions": [
    {
      "id": "SQ-LIP-000025",
      "role": "supporting",
      "question": "What specific genetic variants or inheritance patterns have been identified in lipedema?",
      "url": "https://scientificclaims.org/q/SQ-LIP-000025.html"
    }
  ],
  "url": "https://scientificclaims.org/c/SCR-LIP-000216.html"
}