
Type 1 diabetes mellitus (T1DM) is a complex autoimmune disease characterized by an absolute insulin deficiency. Previous studies have identified more than 60 susceptible loci associated with T1DM, explaining approximately 80%‐85% of the heritability. Many hypotheses have been proposed to explain the missing heritability, including variants remaining to be found and interactions. The following review introduced the possible sources of missing heritability and discuss the existing related knowledge in the context of T1DM.
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