Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.

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This research found that people with a specific 16p11.2 distal deletion (BP2-3) that includes the SH2B1 gene develop obesity and type 2 diabetes earlier and more severely than others with similar weight, suggesting they may benefit from targeted treatments that improve how the body responds to leptin and insulin.