However, TREM2 was first implicated in human health and disease when variants of TREM2 and its adaptor protein DAP12 were identified in families with Nasu-Hakola Disease, which is also known as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. This evidence concerns the gene TREM2 and Nasu-Hakola disease.