Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.

doi:10.1038/s41588-024-01694-x

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Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.

Nature genetics - 1 Apr 2024

Zhao Yajie, Chukanova Maria, Kentistou Katherine A, Fairhurst-Hunter Zammy, Siegert Anna Maria, Jia Raina Y, Dowsett Georgina K C, Gardner Eugene J, Lawler Katherine, Day Felix R, Kaisinger Lena R, Tung Yi-Chun Loraine, Lam Brian Yee Hong, Chen Hsiao-Jou Cortina, Wang Quanli, Berumen-Campos Jaime, Kuri-Morales Pablo, Tapia-Conyer Roberto, Alegre-Diaz Jesus, Barroso Inês, Emberson Jonathan, Torres Jason M, Collins Rory, Saleheen Danish, Smith Katherine R, Paul Dirk S, Merkle Florian, Farooqi I Sadaf, Wareham Nick J, Petrovski Slavé, O'Rahilly Stephen, Ong Ken K, Yeo Giles S H, Perry John R B

Abstract excerpt

Obesity is a major risk factor for many common diseases and has a substantial heritable component. To identify new genetic determinants, we performed exome-sequence analyses for adult body mass index (BMI) in up to 587,027 individuals. We identified rare loss-of-function variants in two genes (BSN and APBA1) with effects substantially larger than those of well-established obesity genes such as MC4R. In contrast...

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PMID: 38575728
DOI: 10.1038/s41588-024-01694-x
PMCID: PMC11018524

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