12505 Prevalence Of Mody Diabetes Polymorphism Of Thai Urban Families By Targeted Next Generation Sequencing Of Diabetes Polymorphism

Abstract Disclosure: S. Niramitmahapanya: None. Prevalence of MODY diabetes polymorphism of Thai Urban families by targeted next-generation sequencing in diabetes polymorphismObjective: To study the prevalence between single nucleotide polymorphism of urban diabetes (UD) and non-diabetes (noD) in Thai population. Method: Cross-sectional study was collected 240 participant samples; 60 from UD, 60 from RnoD, 60 from non-relative, non-diabetes (noRnoD) and 60 diabetes, non-relatives (noRD). And generated diabetes variant frequency in Thai population by targeted next-generation sequencing. Result; Among group of UD and RnoD found that age, fasting blood glucose (FBG), HbA1c and LDL level were statistic significant all parameter by p<0.001. Age in UD was 64.15±10.74 vs. 43.43±12.46 in RnoD, FBs in UD was 129.39±44.91 vs. 99.74±39.75 in RnoD, A1c in UD was 8.26±4.76 vs. 6.17±1.35 in RnoD and LDL level in UD was 98.28±38.52 vs. 129.35±39.75 in RnoD.In subgroup analysis of diabetes variant, we designed Ion AmpliSeq On-Demand Panels (25 genes related diabetes) for targeted sequencing. We didn’t found statistic significant between UD and RnoD group by p-value =0.998 (23 genes; ABCC8, FGA, SELE, PAX4, HNF1A, BLK, LOC10028732, NEUROD1, KCNJ11, MMP2, APPL1, LPL, CAT, CEL, HNF1A, HNF1B, ICAM1, INSR, SOD, GCK, INS and UCP3). We identified 12 mutations of MODY in UD, the most polymorphism was HNF1a and ABCC8 that found 16.4%, PAX4 found 13.1%, APPL1 found 11.5%, KCNJ11 and NEUROD1 found 8.2%, BLK 6.6% and other less polymorphism that found <5% (HNF1B, HNF4a, CEL, GCK, INS). Conclusion; From the study, we analyzed genetic data from 12 genes that involved pathogenesis for diabetes polymorphism between UD and noD groups. We focus on diabetes variant frequency. We found that 5 pathogenic polymorphism such as HNF1a, GCK, CEL, INS and APPL1. Further study needs to evaluate correlation diabetes polymorphism and their treatment protocols. Keywords; Thai urban diabetes, first degree relatives and MODY diabetes polymorphism Presentation: 6/1/2024