Evaluation the Role of Cytotoxic T-lymphocyte Antigen-4 (rs231775) Gene Polymorphism in Patients with Type 1 Diabetes Mellitus

Background: Type I Diabetes Mellitus (T1DM) is categorized by autoimmune destruction of the pancreatic islets, largely driven by T-cell activity. Numerous genetic factors contribute to this autoimmune process. The CTLA-4 gene acts as a key suppressor of T-cell proliferation, thereby influencing the body's propensity for autoimmune conditions.
Objectives: This research aimed to estimate the role of cytotoxic t-lymphocyte antigen-4 CTLA-4 (rs231775) gene polymorphism in cases having type I diabetes mellitus (T1DM).
Subjects and Methods: A total of 112 children participated, split into two equally matched groups: 56 with T1DM and 56 healthy controls matched for age and gender. Genotyping for CTLA-4 rs231775 was performed using allelic discrimination PCR with TaqMan probes.
Results: The incidence of both the GG genotype and the G allele at the rs231775 locus was notably greater in kids with T1DM than in the control group. Statistical analysis revealed strong associations between this CTLA-4 polymorphism and several variables, including patients' age, duration of illness, body mass index, as well as a range of laboratory measures such as fasting glucose, random glucose, two-hour postprandial glucose, glycated hemoglobin (HbA1c), blood urea, creatinine, lipid profile and the albumin-to-creatinine ratio.
Conclusion: Carrying the G allele or being homozygous (GG) for rs231775 in the CTLA-4 gene is related with higher odds for developing T1DM.