ECE2021 Audio Eposter Presentations Diabetes, Obesity, Metabolism and Nutrition (223 abstracts)
Study on INS gene rs689 polymorphism in patients with diabetes mellitus genetic burden
Talat Saatov 1 , Elvira Ibragimova 1 , Zafar Ibragimov 1 , 2 , Nasiba Alimova 3 , Tokhir Ishanhodjaev 1 , Bakhodyr Zainutdinov 1 , Abdunabi Tashtemirov 1 , Kudrat Babaev 2 & Zulaykho Shamansurova & 4
1Institute of Biophysics and Biochemistry, Mirzo Ulugbek National University of Uzbekistan, Laboratory of Metabolomics, Tashkent, Uzbekistan; 2Institute of Hematology, Uzbekistan Public Healthcare Ministry, Department of Molecular Genetics, Tashkent, Uzbekistan; 3Center for the Scientific and Clinical Study of Endocrinology, Uzbekistan Public Healthcare Ministry, Tashkent, Uzbekistan; 4Tashkent Pediatric Medical Institute, Uzbekistan Higher Education Ministry, Tashkent, Uzbekistan
Testing for genetic markers is a promising approach in early diagnosis of type 1 diabetes mellitus (DM1). Of all DM1-associated genes and genetic loci, after HLA class II, insulin promoter gene confers the highest risk for the onset of disease with the burdened familial history for diabetes mellitus.
Materials and methods
Genealogical analysis was used to identify the hereditary nature of the disease. DNA samples from 94 Uzbek patients with DM1 with the burdened familial history and from 66 apparently healthy persons included into the control group were analyzed. Original designs for primers to perform standard polymerase chain reaction (PCR) were made by bioinformatics analysis of data from NCBI Genome Data Viewer (GDV) by means of BioEdit program. INS (rs689) gene polymorphic region was amplified by PCR using allele-specific PCR methods.
Results
The findings from the genotyping of rs689 polymorphism of INS gene demonstrated that the frequencies of INS gene wild A allele were 76.1% and 90.1% in patients and controls, respectively. In the population sample, the T deleterious allele could be seen less frequently than in the 1st group patients (9.9 and 23.9%, respectively). Among patients with DM1, the AT genotype was 2.3 times more frequent than in the non-diabetics (39.3 vs 16.7%, respectively). The findings from the study on association between INS gene polymorphism and DM1 risk demonstrated statistically significant association of the T allele (χ2=9.4; Р < 0.05; OR = 2.88; 95%CI 1.84–5.59) and the AT heterozygous genotype (χ2=9.2; Р < 0.05; OR = 3.42; 95%CI 1.58–7.42) with the increased DM1 risk. The differences with the control group by the A allele (OR = 0.34; 95% CI: 0.18–0.67; χ2 = 9.4) of INS gene can be the evidence for its negative association with the disease, that is, the A allele carriership reduces DM1 onset risk being of a protective character. In other studies, next to significantly lower incidence of DM1 the Asian populations were established to have higher frequency of the A allele of INS gene rs689. Thus, the findings from genotyping of INS gene rs689 polymorphism in patients with the familial burden for diabetes mellitus demonstrated association of the T allele and the AT heterozygous genotype with the DM onset risk.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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