Assessment of Insulin Gene VNTR INS -23/Hph1 (rs689) Polymorphism and its Relation with Type 1 Diabetes Mellitus in Egyptian Children: Review Article | ||||
The Egyptian Journal of Hospital Medicine | ||||
Article 68, Volume 98, Issue 1, January 2025, Page 469-479 PDF (962.28 K) | ||||
Document Type: Original Article | ||||
DOI: 10.21608/ejhm.2025.406774 | ||||
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Abstract | ||||
Chronic autoimmune illness, including type 1 diabetes mellitus (T1DM), are common in young people especially children and teenagers. The classic "trio" of symptoms: polydipsia, polyphagia, and polyuria, are observed when pancreatic β cells are lost, leading to insulin insufficiency and hyperglycemia. The likelihood of developing T1DM and type 2 diabetes mellitus (T2DM) is six and three times higher in individuals with a family history of these conditions, respectively, than in those who are unrelated. The multifactorial etiology of T1DM likely involves a combination of environmental and genetic factors that either initiate or permit the autoimmune response against the β-cells. HLA genes exert the greatest impact on the likelihood of developing TIDM. Polymorphisms in the insulin (INS) gene's noncoding region (IDDM2) influence the likelihood of developing T1DM, second only to HLA in importance. An insulin gene mini-satellite called a variable nucleotide tandem repeat (VNTR) is present at the 5′ end of this locus. The size of the VNTR determines its classification into three primary groups: class I (26–63 repeats), class II (about 80 repeats), and class III (140–200 repeats). Insulin gene polymorphisms can be used as markers because they are in a linkage disequilibrium with the VNTR region. This review article aims to assess the Insulin Gene VNTR INS -23/Hph1 (rs689) Polymorphism in Type 1 Diabetes Mellitus patients. | ||||
Keywords | ||||
Insulin Gene VNTR INS -23/Hph1 (rs689) Polymorphism; T1DM; Paediatrics; Autoimmunity; Genetic Risk Score (GRS) | ||||
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