SCR-LIP-000240 · Claim · machine-readable JSON →
This review identifies specific lipedema-associated variants in AKR1C genes, including the familial AKR1C1 p.Leu213Gln (L213Q) mutation segregating across three generations and reducing catalytic efficiency ~50%, the gain-of-function AKR1C2 Ser320PheTer2 mutation, AKR1C2 overexpression in 24% (5/21) of patients without coding mutations, and regulatory SNPs rs28571848 (glucocorticoid receptor site) and rs34477787 (RORα site) that increase AKR1C2/AKR1C3 expression and truncal fat mass independent of BMI.
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 (1)
- From rare familial mutations to multifactorial disease: aldo-keto reductase 1C enzymes as a central biological pathway in lipedema — Vainberg et al. (2026) — supporting · review · 2026
The article directly reviews specific genetic variants and inheritance patterns in lipedema (familial AKR1C1 L213Q segregating in 3 generations, AKR1C2 mutation, regulatory SNPs), proposing a mono-to-multifactorial genetic model. As a narra
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