The Past, Present, and Future of Genetic Associations in Type 1 Diabetes
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Type 1 diabetes mellitus (T1DM) is an autoimmune disease affecting approximately one in 300 individuals in the United States. The majority of genetic research to date has focused on the heritability that predisposes to islet autoimmunity and T1DM. The evidence so far points to T1DM being a polygenic, common, complex disease with major susceptibility lying in the major histocompatibility complex (MHC) on chromosome 6 with other smaller effects seen in loci outside of the MHC. With recent advances in technology, novel means of exploring the human genome have given way to new information in the development of T1DM. The newest technologies, namely high-throughput polymorphism typing and sequencing, have led to a paradigm shift in studying common diseases such as T1DM. In this review we highlight the advances in genetic associations in T1DM in the last several decades and how they have led to a better understanding of T1DM pathogenesis.
KeywordsType 1 diabetes Autoimmune diseases Major histocompatibility complex Human leukocyte antigen Genetic association study Linkage study Candidate gene Extended haplotype Single nucleotide polymorphism Genome-wide association study Whole exome sequencing
A.K. Steck has received a JDRF Early Career Patient Oriented Research Award (11-2010-206).
No potential conflicts of interest relevant to this article were reported.
Papers of particular interest, published recently, have been highlighted as: • Of importance
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