Relationship of fat mass ratio – a biomarker for lipodystrophy – with cardiometabolic traits

• DOI: 10.2337/figshare.25189037.v1
• Publication Date: 2024-02-12T16:59:50Z
• Authors: Saaket Agrawal; Jian’an Luan; Beryl B. Cummings; Ethan Weiss; Nick J. Wareham; Amit V. Khera
• Keywords: Lipodystrophy

<p dir="ltr">Familial partial lipodystrophy (FPLD) is a heterogenous group of syndromes associated with high prevalence cardiometabolic diseases. Prior work has proposed DEXA-derived fat mass ratio (FMR) – defined as trunk percentage (trunk %) divided by leg (leg biomarker FPLD, but this metric not previously been characterized in large cohort studies. We set out to (1) understand the burden individuals FMR up 40,796 participants UK Biobank and 9,408 Fenland study, (2) characterize common variant genetic underpinnings FMR, (3) build test polygenic predictor for FMR. Participants were at higher risk type 2 diabetes (OR = 2.30, p 3.5 x 10<sup>-41</sup>) MASLD/MASH 2.55, 4.9 10<sup>-7</sup>) Biobank, had fasting insulin (difference +19.8 pmol/L, 5.7 10<sup>-36</sup>) triglycerides +36.1 mg/dL, 2.5 10<sup>-28</sup>) Study. Across its component traits, 61 conditionally independent variant-trait pairs discovered, including 13 newly-identified pairs. A score was increased This establishes significance FPLD two studies may prove useful increasing diagnosis rates patients metabolically unhealthy distribution enable treatment or preventive therapy.</p>