Journal
JOURNAL OF DIABETES INVESTIGATION
Volume 2, Issue 6, Pages 415-420Publisher
WILEY-BLACKWELL
DOI: 10.1111/j.2040-1124.2011.00176.x
Keywords
Autoimmune disease; Genetics; Type 1 diabetes
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Funding
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Health and Labor Sciences Research Grants
- Ministry of Health, Labor and Welfare
- National Center for Global Health and Medicine
- research on intractable diseases
- Grants-in-Aid for Scientific Research [23591327, 21591152] Funding Source: KAKEN
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Type 1 diabetes is etiologically a multifactorial disease caused by a complex interaction of genetic and environmental factors, with the former consisting of multiple susceptibility genes. Identification of genes conferring susceptibility to type 1 diabetes would clarify etiological pathways in the development and progression of type 1 diabetes, leading to the establishment of effective methods for prevention and intervention of the disease. Among multiple susceptibility genes, HLA and INS are particularly important because of their contribution to tissue specificity in the autoimmune process. DRB1*04:05-DQB1*04:01 is associated with autoimmune type 1 diabetes, idiopathic fulminant type 1 diabetes and anti-islet autoimmunity in autoimmune thyroid diseases, suggesting that this haplotype is associated with beta-cell specificity in autoimmune diseases. Genes involved in the expression of insulin in the thymus contribute to beta-cell-specific autoimmune mechanisms in type 1 diabetes. These genes and pathways are important targets for tissue-specific prevention and intervention of type 1 diabetes. (J Diabetes Invest, doi: 10.1111/j.2040-1124.2011.00176.x, 2011)
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