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Background: The etiology of human type 1 diabetes is still largely obscure, but it is recognized that both genetic and environmental factors are implicated in its risk. The aim of the study: To assess the genetic association of BANK1 rs3733197 polymorphisms in a sample of Egyptian children with T1DM and compare it to healthy controls. Methods: We enrolled 100 children;75 children with T1DM and 25 healthy control children matched for age and sex. Children were subjected to: history taking, clinical examination, measuring fasting serum glucose, glycosylated hemoglobin (HbA1C), serum total cholesterol and genotyping of BANK1 Alanine383Thereonine SNP (rs3733197) with real- time PCR allele discrimination. Results: Patients had statistically significant difference regarding allele frequency of BANK 1 (rs3733197) SNP as and it exhibited an increased G allele frequency in diabetic group compared with controls. The allelic association analysis confirmed a significant association with T1DM (OR=2.15, 95% CI = 1.12-4.15), while A allele was decreased in T1DM compared to controls (OR= 0.46, 95% CI = 0.24-0.89). Only the AA genotype of the additive model in the diabetic group was statistically significant decreased as compared with the control group (p=0.022, OR=0.26 and 95% CI = 0.08-0.86). No statistically significant difference regarding other genotype distribution could be detected. Also, there was no statistically significant association between genotypes and alleles of BANK1 rs3733197 SNP with any of the clinical or laboratory data of the study.
Rosane Cavalcante Fragoso, Brasil
Chief Scientific Officer and Head of a Research Group
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