PMID- 29951384 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20240327 IS - 1016-1430 (Print) IS - 2251-6840 (Electronic) IS - 1016-1430 (Linking) VI - 31 DP - 2017 TI - The Relationship between insulin variable number of tandem repeats (INS-VNTR) -23 A/T and cytotoxic Tlymphocyte associated protein-4 (CTLA-4) +49 A/G polymorphisms with islet autoantibodies in persons with diabetes. PG - 83 LID - 10.18869/mjiri.31.83 [doi] AB - Background: Both genetic and environmental factors are important in pathogenesis of diabetes. Non HLA (Human Leukocyte Antigen) genes such as INS-VNTR and CTLA-4 in addition of HLA genes have influence on genetic susceptibility for diabetes mellitus. In this study the association of +49 A/G CTLA-4 and -23 A/T INS-VNTR polymorphisms with diabetes and their association with islet autoantibodies were investigated. Methods: Thirty four autoantibody positive adult persons with diabetes mellitus and 39 persons with Type 1diabetes mellitus (T1DM), 40 autoantibody negative Type 2 diabetes mellitus (T2DM) patients and 40 healthy controls were studied using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) technique. Results: The frequencies of -23 A/T INS-VNTR genotypes were not significantly different among study groups. It was shown that the distribution of the +49A/G CTLA-4 allele and genotype frequencies did not differ between T1DM patients, autoantibody positive adult patients and controls. With increasing CTLA-4 G allele and GG/AG genotypes, the frequency of Glutamic Acid Decarboxylase Autoantibody (GADA), Islet Cell Autoantibody (ICA) and Islet Antigen 2 Antibody (IA2A) positive patients were increased. Conclusion: Our results suggest that susceptibility allele A of -23A/T INS-VNTR does not have any role in the pathogenesis of diabetes in our patients and susceptibility allele G of +49 A/G CTLA-4 if not, has a small role in pathogenesis of diabetes in T1DM and autoantibody positive adult patients and in spite of significant increase in autoantibody negative T2DM group it does not have any role in disease pathogenesis. FAU - Khoshroo, Mohammad AU - Khoshroo M AD - Department of Immunology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran. FAU - Khamseh, Mohammad Ebrahim AU - Khamseh ME AD - Endocrine Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences, Tehran, Iran. FAU - Amir Zargar, Ali Akbar AU - Amir Zargar AA AD - Molecular Immunology Research Center, Tehran University of Medical Science, Tehran, Iran. FAU - Malek, Mojtaba AU - Malek M AD - Endocrine Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences, Tehran, Iran. FAU - Falak, Reza AU - Falak R AD - Department of Immunology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran. FAU - Shekarabi, Mehdi AU - Shekarabi M AD - Department of Immunology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran & Immunology Research Center, Iran University of Medical Sciences, Tehran, Iran. LA - eng PT - Journal Article DEP - 20171212 PL - Iran TA - Med J Islam Repub Iran JT - Medical journal of the Islamic Republic of Iran JID - 8910777 PMC - PMC6014810 OTO - NOTNLM OT - Autoantibodies OT - CTLA-4 OT - Diabetes Mellitus OT - INS-VNTR OT - Polymorphism EDAT- 2018/06/29 06:00 MHDA- 2018/06/29 06:01 PMCR- 2017/12/12 CRDT- 2018/06/29 06:00 PHST- 2016/02/05 00:00 [received] PHST- 2018/06/29 06:00 [entrez] PHST- 2018/06/29 06:00 [pubmed] PHST- 2018/06/29 06:01 [medline] PHST- 2017/12/12 00:00 [pmc-release] AID - 10.18869/mjiri.31.83 [doi] PST - epublish SO - Med J Islam Repub Iran. 2017 Dec 12;31:83. doi: 10.18869/mjiri.31.83. eCollection 2017.