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KMID : 1036920190240030143
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Annals of Pediatric Endocrinology & Metabolism
2019 Volume.24 No. 3 p.143 ~ p.148
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Genetic aspects of type 1 diabetes
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Lee Hae-Sang
Hwang Jin-Soon
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Abstract
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Type 1 diabetes mellitus (T1DM) is characterized by autoimmune destruction of pancreatic beta-cells in genetically predisposed individuals, eventually resulting in severe insulin deficiency. It is the most common form of diabetes in children and adolescents. Genetic susceptibility plays a crucial role in development of T1DM. The human leukocyte antigen complex plays a key role in the pathogenesis of T1DM. Furthermore, genome-wide association studies and linkage analysis have recently made a significant contribution to current knowledge relative to the impact of genetics on T1DM development and progression. This review focuses on current knowledge of genetics as a pathogenesis for T1DM. It also discusses mechanisms by which genes influence the risk of developing T1DM as well as the clinical and research applications of genetic risk scores in T1DM.
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KEYWORD
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Type 1 diabetes, GWAS, Human leukocyte antigen, Genetic risk score
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