FNIP1 gene mutation linked to leanness and lower disease risk

A large-scale genetic study involving over one million people has identified a rare mutation in the FNIP1 gene that is associated with a highly efficient metabolic profile. Approximately 1 in 7,000 individuals carry a single broken copy of this gene, which results in lower body fat, increased lean mass, reduced liver fat, and lower blood sugar levels.

Carriers of this single-copy mutation also face significantly lower risks—roughly 60% lower—of developing type 2 diabetes, coronary artery disease, and metabolic liver disease. However, researchers noted that inheriting two broken copies of the gene leads to a serious inherited disease. The study, led by the Regeneron Genetics Center and published in Nature, utilized the ratio of triglycerides to HDL cholesterol as a key indicator of metabolic health and energy states across diverse ancestry groups.