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Related Experiment Video

Updated: Oct 10, 2025

Author Spotlight: Semi-Automated Isolation of the Stromal Vascular Fraction from Murine White Adipose Tissue Using a Tissue Dissociator

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Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.

Mine Koprulu¹, Yajie Zhao¹, Eleanor Wheeler¹

¹MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge, CB2 0QQ, UK.

The Journal of Clinical Endocrinology and Metabolism

|December 7, 2021

Summary

Loss of function in four genes (PLIN1, INSR, ACVR1C, PDE3B) benefits fat distribution and metabolic health. However, loss of function in PLIN4 is detrimental, and INSR loss of function may increase type 2 diabetes risk.

Keywords:

UK Biobank cardiometabolic risk fat distribution genetic variants loss of function

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Area of Science:

Genetics
Metabolic Health
Obesity Research

Background:

Genetic studies on fat distribution are limited by noncoding variants.
Rare coding variants offer stronger gene association but don't clarify functional impact (gain vs. loss of function).

Purpose of the Study:

Identify genes and proteins regulating fat distribution.
Determine the therapeutic potential of targeting specific genes based on loss of function (LoF) effects.

Main Methods:

Genome-wide analysis of rare, nonsynonymous variants in 450,562 UK Biobank participants.
Exome-sequence-based rare LoF gene burden testing in 184,246 individuals.

Main Results:

LoF in PLIN1, INSR, ACVR1C, and PDE3B positively impacts waist-to-hip ratio and gluteofemoral fat.
LoF in PLIN4 adversely affects these parameters.
LoF in PLIN1, PDE3B, and ACVR1C improves metabolic phenotypes (triglycerides, HDL) and reduces cardiovascular disease risk.
INSR LoF is linked to lower triglycerides and HDL but may increase type 2 diabetes risk.

Conclusions:

This study strongly implicates identified genes in fat distribution regulation.
Findings offer novel, sometimes counterintuitive, insights into therapeutic targeting of these genes.