Detection of Single Nucleotide Polymorphism (SNP) (rs34819629) and its Association with Pediatric Type 1 Diabetes Mellitus

: Background : Diabetes mellitus (DM) is a chronic metabolic disorder caused by an absolute or relative deficiency of insulin, an anabolic hormone. Insulin is produced by the beta cells of the islets of Langerhans located in the pancreas, and the absence, destruction, or other loss of these cells results in type 1 diabetes, so we aim to investigate the presence of a genetic association between single nucleotide polymorphism (SNP) and pediatric T1DM in a group of pediatric Egyptian patients. Patient and method: The study was a case control study conducted on 80 diabetic subjects aged 5-15 years recruited from the endocrine clinic Pediatrics, Beni-Suef University, and 76 apparently healthy controls with matched age and sex. All subjects were subjected to history taking, full clinical examination, laboratory tests (hemoglobin A1C, TSH, free T4, serum high density lipoprotein, serum low density lipoprotein, serum triglycerides) and SNP (rs34819629) was done by allelic discrimination technique using real time PCR. Results: In our study, the diabetic patients were 28 males (35.0%) and 52 females (65.0%), with a mean age of 10.0 ± 3.2 SD.AS for the control group they were 52 females (68.4%) and 24 males (31.6%) with a mean age 8.8 ± 2.8 SD and we found that Female cases affected more than males and No association was found in SNP (rs34819629) with Type 1 diabetes mellitus. Conclusion : Microalbuminuria was the most complication in our results and no association was found between SNP (rs34819629) and Type 1diabetes mellitus.