An analysis of more than one million genomes has identified rare mutations in a single gene that are associated with more muscle, less abdominal fat and a roughly 60 per cent lower risk of cardiometabolic disease, according to research published in Nature on Wednesday.
The gene, FNIP1, governs part of how cells detect and respond to nutrients. About one in 7,000 people sequenced carried one of the newly identified variants.
What did the study find?
Carriers showed a higher proportion of muscle to fat tissue, lower levels of belly fat and lower blood sugar, alongside reduced rates of type 2 diabetes and heart disease.
Researchers then silenced genes in the FNIP1 pathway in mice. The animals broke down fat and reproduced the metabolic profile seen in human carriers, which supports a causal link rather than a statistical association.
| Finding | Detail |
|---|---|
| Genomes analysed | More than 1 million |
| Gene | FNIP1 |
| Carrier frequency | About 1 in 7,000 |
| Reduction in cardiometabolic risk | Roughly 60% |
What is the FNIP1 gene study?
A genomic study published in Nature on 5 August 2026 analysed more than one million diverse human genomes and identified rare variants that disrupt the FNIP1 gene. Carriers of these variants showed an increased proportion of muscle mass, reduced abdominal fat, lower blood sugar and approximately 60 per cent lower risk of cardiometabolic disease than the general population. Cardiometabolic conditions include type 2 diabetes, heart attack, stroke and some forms of liver disease. Roughly one in 7,000 people sequenced carried such a variant. Researchers subsequently silenced genes in the FNIP1 pathway in mice, which induced fat breakdown and reproduced the metabolic benefits observed in human carriers. Luca Lotta of the Regeneron Genetics Center was a co-author. The findings identify FNIP1 as a potential target for drugs aimed at cardiometabolic disease.
Why does it matter?
Cardiometabolic conditions, a group that includes stroke, diabetes, heart attack and some liver diseases, are the leading cause of death worldwide.
Luca Lotta, a human geneticist at the Regeneron Genetics Center in Tarrytown, New York, and a co-author of the study, said these diseases are the world’s biggest killer and have a strong genetic basis.
For the overwhelming majority who do not carry the variants, the value lies in what they point to. A gene with a demonstrated protective effect becomes a candidate for drugs designed to reproduce that effect pharmacologically.
How does this approach work?
Identifying protective mutations and then developing drugs to imitate them is an established route in pharmaceutical research. It produced cholesterol-lowering treatments after variants in the PCSK9 gene were linked to reduced heart disease risk.
The method depends on scale. Variants carried by one in several thousand people only become detectable in datasets running to hundreds of thousands or millions of sequenced genomes.
What are the limits?
The study establishes an association in humans and a mechanism in mice. Neither guarantees that a drug acting on the same pathway would be safe or effective in people, and most targets identified this way do not reach clinical use.
Carriers also live with the variant from birth, which is not the same as intervening in adulthood. Lifelong protection may not be reproducible by a treatment started later.
The analysis drew on diverse genomes rather than a single population, which matters because genomic databases have historically over-represented people of European ancestry and produced findings that generalise poorly.
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Sources for this report
The Redline News Desk
The Redline News desk files and edits world reporting. Every story carries the sources it was built from, and corrections are published on the story itself.
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