Current understandings of the pathogenesis of type 1 diabetes: Genetics to environment

World J Diabetes. 2020 Jan 15;11(1):13-25. doi: 10.4239/wjd.v11.i1.13.


Type 1 diabetes (T1D) is an autoimmune disease that usually strikes early in life, but can affect individuals at almost any age. It is caused by autoreactive T cells that destroy insulin-producing beta cells in the pancreas. Epidemiological studies estimate a prevalence of 1 in 300 children in the United States with an increasing incidence of 2%-5% annually worldwide. The daily responsibility, clinical management, and vigilance required to maintain blood sugar levels within normal range and avoid acute complications (hypoglycemic episodes and diabetic ketoacidosis) and long term micro- and macro-vascular complications significantly affects quality of life and public health care costs. Given the expansive impact of T1D, research work has accelerated and T1D has been intensively investigated with the focus to better understand, manage and cure this condition. Many advances have been made in the past decades in this regard, but key questions remain as to why certain people develop T1D, but not others, with the glaring example of discordant disease incidence among monozygotic twins. In this review, we discuss the field's current understanding of its pathophysiology and the role of genetics and environment on the development of T1D. We examine the potential implications of these findings with an emphasis on T1D inheritance patterns, twin studies, and disease prevention. Through a better understanding of this process, interventions can be developed to prevent or halt it at early stages.

Keywords: Diabetes prevention; Role of genetics in type 1 diabetes; Type 1 diabetes concordance; Type 1 diabetes discordance; Type 1 diabetes environment; Type 1 diabetes epigenetics; Type 1 diabetes genetics; Type 1 diabetes twin studies.

Publication types

  • Review