Type 1 diabetes mellitus

Definition:

The majority of type 1 diabetes mellitus (T1DM) cases are believed to arise from an inflammatory, autoimmune attack against the beta cells in the pancreas, which consequently leads to the failure of insulin-mediated blood glucose regulation in the body. T1DM signs and symptoms can come on quickly and may include increased thirst and frequent urination, fatigue, weight loss and so on. It is recognized that both genetic and environmental determinants are important in defining disease risk. The HLA class II genes are most strongly associated with T1DM. Another plausible candidate genes are INS, CTLA4 and PTPN22. The disease may be a result of variations in several susceptibility genes, with the majority only contributing weak effects.

References:

[1]. Adrian Vella, et al. Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. Am J Hum Genet. 2005 May;76(5):773-9. [Content Brief]

[2]. Ágnes Jermendy, et al. Association between interferon-induced helicase (IFIH1) rs1990760 polymorphism and seasonal variation in the onset of type 1 diabetes mellitus. Pediatr Diabetes. 2018 Mar;19(2):300-304. [Content Brief]

[3]. Anders Molven, et al. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 2008 Apr;57(4):1131-5. [Content Brief]

[4]. Cristine Dieter, et al. The rs11755527 polymorphism in the BACH2 gene and type 1 diabetes mellitus: case control study in a Brazilian population. Arch Endocrinol Metab. 2020 Apr;64(2):138-143. [Content Brief]

[5]. Deborah J Smyth, et al. Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med. 2008 Dec 25;359(26):2767-77. [Content Brief]

[6]. Dehuang Guo, et al. A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes. Nat Genet. 2004 Aug;36(8):837-41. [Content Brief]

[7]. Elena Y Lavrikova, et al. The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients. Pediatr Diabetes. 2011 Mar;12(2):127-32. [Content Brief]

[8]. Elizabeth Ramos Lopez, et al. CYP27B1 polymorphisms variants are associated with type 1 diabetes mellitus in Germans. J Steroid Biochem Mol Biol. 2004 May;89-90(1-5):155-7. [Content Brief]

[9]. H W Liu, et al. Association of PTPN22 gene polymorphism with type 1 diabetes mellitus in Chinese children and adolescents. Genet Mol Res. 2015 Jan 15;14(1):63-8. [Content Brief]

[10]. H-Q Qu, et al. The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II. Genes Immun. 2008 Apr;9(3):264-6. [Content Brief]

[11]. Houria Ounissi-Benkalha, et al. The molecular genetics of type 1 diabetes: new genes and emerging mechanisms. Trends Mol Med. 2008 Jun;14(6):268-75. [Content Brief]

[12]. Hui Peng, et al. Genetic Variants of PTPN2 Gene in Chinese Children with Type 1 Diabetes Mellitus. Med Sci Monit. 2015 Sep 7;21:2653-8. [Content Brief]

[13]. Konstantinos Douroudis, et al. Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population. BMC Med Genet. 2010 Jan 20;11:11. [Content Brief]

[14]. L Nisticò, et al. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. Hum Mol Genet. 1996 Jul;5(7):1075-80. [Content Brief]

[15]. Morgan A Gingerich, et al. Clarifying the function of genes at the chromosome 16p13 locus in type 1 diabetes: CLEC16A and DEXI. Genes Immun. 2020 Feb;21(2):79-82. [Content Brief]

[16]. Natália Emerim Lemos, et al. The rs2292239 polymorphism in ERBB3 gene is associated with risk for type 1 diabetes mellitus in a Brazilian population. Gene. 2018 Feb 20;644:122-128. [Content Brief]

[17]. Patrick Concannon, et al. Genetics of type 1A diabetes. N Engl J Med. 2009 Apr 16;360(16):1646-54. [Content Brief]

[18]. Rehab G Khalil, et al. Association of interleukin-2, interleukin-21 and interleukin-23 with hyperlipidemia in pediatric type 1 diabetes. Mol Biol Rep. 2021 Jul;48(7):5421-5433. [Content Brief]

[19]. S S Abu El-Ella, et al. CD226 gene polymorphism (rs763361 C>T) is associated with susceptibility to type 1 diabetes mellitus among Egyptian children. Arch Pediatr. 2018 Aug;25(6):378-382. [Content Brief]

[20]. S Yamada, et al. Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. Diabetes. 1997 Oct;46(10):1643-7. [Content Brief]

[21]. Tina Fløyel, et al. CTSH regulates β-cell function and disease progression in newly diagnosed type 1 diabetes patients. Proc Natl Acad Sci U S A. 2014 Jul 15;111(28):10305-10. [Content Brief]

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