{
  "id": "SCR-LIP-000315",
  "statement": "Whole-exome sequencing in a family with autosomal dominant nonsyndromic primary lipedema identified the AKR1C1 c.638T>A (p.L213Q) variant segregating perfectly with the disease in 3 affected members (puberty onset in all) and absent in 9 unaffected members, with molecular dynamics and QSAR predicting partial loss of 20α-HSD function that may promote lipogenesis via reduced progesterone catabolism.",
  "statement_pt": "O sequenciamento de exoma completo em uma família com lipedema primário não sindrômico de transmissão autossômica dominante identificou a variante AKR1C1 c.638T>A (p.L213Q) com segregação perfeita com a doença nas 3 pacientes afetadas (início na puberdade em todas) e ausente nos 9 membros não afetados, com simulações de dinâmica molecular e QSAR prevendo perda parcial de função da 20α-HSD que pode promover lipogênese via menor catabolismo de progesterona.",
  "claim_type": "clinical_association",
  "context": {
    "population": "—",
    "condition": "lipedema",
    "exposure": "—",
    "comparator": "—",
    "outcome": "—",
    "scope": "auto-ingested from Layer 1 surveillance"
  },
  "knowledge_state": "emerging",
  "evidence_confidence": "low",
  "evidence": [
    {
      "ref": "DOI:10.3390/ijms21176264",
      "stance": "supporting",
      "study_design": "case_report",
      "n": null,
      "risk_of_bias": "unknown",
      "grade": "low",
      "year": 2020,
      "amato_authored": false,
      "note": "The article reports a hereditary (autosomal dominant) gene variant segregating with lipedema and links a hormonal mechanism (progesterone metabolism via 20α-HSD) to disease onset at puberty, directly supporting both heredity and hormonal in"
    }
  ],
  "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-000012",
    "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-000012"
    }
  ],
  "license": "CC-BY-4.0",
  "answers_questions": [
    {
      "id": "SQ-LIP-000012",
      "role": "supporting",
      "question": "Do hormones and heredity influence the onset of lipedema?",
      "url": "https://scientificclaims.org/q/SQ-LIP-000012.html"
    }
  ],
  "url": "https://scientificclaims.org/c/SCR-LIP-000315.html"
}