Additionally, genome‐wide association studies had shown that loss‐of‐function mutations in ATXN2 gene may be associated with susceptibility to type I diabetes, obesity and hypertension, while NOTCH1 gene mutations were associated with aortic value disease, Adams‐Oliver syndrome, T‐cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. The gene discussed is NOTCH1; the disease is head and neck squamous cell carcinoma.