IDENTIFYING GENETIC RISK FACTORS FOR EARLY-ONSET TYPE 1 DIABETES

Abstract

Early-onset type 1 diabetes mellitus (T1D) is an autoimmune condition primarily affecting children and adolescents, characterised by the destruction of pancreatic β-cells. While environmental triggers are known contributors, genetic predisposition remains a pivotal determinant in disease development. This study aimed to identify and quantify key genetic risk factors associated with early-onset T1D.
For the study, one hundred people with early-onset T1D and one hundred healthy participants matched by age and sex were used.  Paired genomic DNA samples for T1D-associated alleles including HLA-DR3, HLA-DR4, INS (rs689), CTLA4 (rs231775), PTPN22 (rs2476601), IL2RA (rs2104) and IFIH1 (rs1990760) were analyzed by examining how many times each allele occurred in each group.  Additionaly, I collected information regarding autoimmune illnesses in people’s families.  The T1D group had a significantly higher rate of HLA-DR3 (68%) and HLA-DR4 (60%) alleles than the controls did.  Interesting findings were a hike in the INS AA version (55% vs. 20%), CTLA4 GG version (48% vs. 22%) and PTPN22 TT version (50% vs. 18%) in T1D.  In addition, we observed higher frequencies of IL2RA AA (52%) than IFIH1 CC (19%) and IL2RA AA (21%) for IFIH1 CC (45%).  More than 60 percent of those living with T1D said they had relatives with some form of autoimmune disease.  T1D group participants were found to carry much higher genetic risk, suggesting their genes make them more likely to develop T1D.  We saw a statistically significant relationship in all the associations (p < 0.01).  This study explains that particular HLA and non-HLA genetic markers have an important role in early-onset T1D.  As a result, it becomes necessary to screen genes and classify individuals by risk level to begin interventions that try to control or stop the beginning of diseases early.