ECE2022 Eposter Presentations Diabetes, Obesity, Metabolism and Nutrition (318 abstracts)
Development of complex of biomarkers for screening program for early diagnosis of familial diabetes mellitus
Talat Saatov 1 , Kha Karimov 2 , Zafar Ibragimov 1 , Timur Alimov 2 , Nasiba Alimova 3 , Anvar Abduvaliev 1 , Kodirjon Boboev 2 , Elvira Ibragimova 1 , Tokhir Ishankhodjaev 1 , Zulaykho Shamansurova 1,4 & Abdunabi Tashtemirov 1
1Institute of Biophysics and Biochemistry under Mirzo Ulugbek National University of Uzbekistan, Metabolomics, Tashkent, Uzbekistan; 2Specialized Scientific-Practical Medical Center of Hematology, Uzbekistan Public Healthcare Ministry, Tashkent, Uzbekistan; 3Ya.Kh. Turakulov Center for the Scientific and Clinical Study of Endocrinology, Uzbekistan Public Healthcare Ministry, Tashkent, Uzbekistan; 4Tashkent Pediatric Medical Institute, Uzbekistan Ministry of Education, Tashkent, Uzbekistan
Diabetes mellitus (DM) is a most significant medical-social worldwide problem. Absence of reliable screening program for identification of persons with the higher risk of DM dictates a necessity of sensitive tests of early DM diagnosis. Following genealogical analysis, two experimental groups were formed; patients with type 1 DM with the familial burden (probands) and those at risk (siblings) were included into the 1st and 2nd groups, respectively. Apparently healthy subjects without carbohydrate metabolism disorders served as the controls. The screening program consisted of determination of immunological and genetic biomarkers, to name presence of specific autoantibodies to β- cells of Langergance islets (ICA) and to decarboxylase glutamic acid (GAD), A49/G polymorphisms of CTLA4 gene and INS gene rs689 in patients with the familial DM burden and persons at high DM risk. The familial DM burden was found in 71.2% of patients with type 1 DM. In the probands, significant increase of mean concentrations of ICA and GAD autoantibodies, as compared to the controls (P < 0.001) was found. Among the patients having siblings with DM as the first line relatives, concentrations of the GAD autoantibodies were found almost two times higher than in those with DM but without familial DM burden. Analysis of results of genotyping for CTLA4 gene A49/G polymorphisms and those of INS gene rs689 in patients with genetically determined DM burden demonstrated association of G allele and heterozygous AG genotype of CTL4 gene and T allele and heterozygous AT genotype of INS gene with the risk of DM onset. The findings are the evidence for importance of biomarkers under study for identification of genetically determined DM forms and prognosis for its progression at early preclinical stage.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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