However, despite the fact that NOD2 is the main genetic locus associated with CD risk, mutations in this locus cannot be considered as a necessary and sufficient condition for CD development, since they can occur in a population of healthy people with a frequency of 0.5–2%, and, at the same time, in 60–70% of patients with CD do not carry NOD2 mutations [31]. The gene discussed is NOD2; the disease is Cowden disease.