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  • 24 -11 (85) 2025 - Saatov T.S., Ibragimov Z.Z. - INVESTIGATION OF THE GENETIC ASSOCIATION BETWEEN THE rs1799817 POLYMORPHISM OF THE INS

24 -11 (85) 2025 - Saatov T.S., Ibragimov Z.Z. - INVESTIGATION OF THE GENETIC ASSOCIATION BETWEEN THE rs1799817 POLYMORPHISM OF THE INS

INVESTIGATION OF THE GENETIC ASSOCIATION BETWEEN THE rs1799817 POLYMORPHISM OF THE INSULIN RECEPTOR GENE AND THE DEVELOPMENT OF TYPE II DIABETES

Saatov T.S. - Institute of Biophysics and Biochemistry at the National University of Uzbekistan named after Mirzo Ulugbek

Ibragimov Z.Z. - Institute of Biophysics and Biochemistry at the National University of Uzbekistan named after Mirzo Ulugbek

Abdurahimov S.A. - Institute of Biophysics and Biochemistry at the National University of Uzbekistan named after Mirzo Ulugbek

Ibragimova E.A. - Institute of Biophysics and Biochemistry at the National University of Uzbekistan named after Mirzo Ulugbek

Shamansurova Z. - Institute of Biophysics and Biochemistry at the National University of Uzbekistan named after Mirzo Ulugbek, Central Asian University

Ishankhodjaev T.M. - Institute of Biophysics and Biochemistry at the National University of Uzbekistan named after Mirzo Ulugbek

Toshtemirov A.E. - Institute of Biophysics and Biochemistry at the National University of Uzbekistan named after Mirzo Ulugbek

Bohodirov H.Q. - Institute of Biophysics and Biochemistry at the National University of Uzbekistan named after Mirzo Ulugbek

Qiyomov O.A. - Institute of Biophysics and Biochemistry at the National University of Uzbekistan named after Mirzo Ulugbek

Resume

Type 2 diabetes mellitus (T2DM) is a chronic disease characterized by elevated blood glucose levels due to defects in insulin secretion or its impact system. This disease develops as a result of the interaction of genetic, metabolic, and environmental factors. In this study, we investigated the single nucleotide polymorphism (SNP) rs1799817, located in exon 17 of the insulin receptor gene (IR). This polymorphism is located in the tyrosine kinase domain and may affect the efficiency of insulin signaling and increase the risk of developing T2DM.The study included 144 volunteers. Sixty-six of these volunteers were patients with T2DM, who constituted the main group, while the remaining 78 healthy individuals constituted the control group. For genetic analysis, DNA was isolated from peripheral blood samples, and the rs1799817 polymorphism of the IR gene was detected using standard PCR analysis and subsequent restriction of amplicons with the PmlI enzyme. According to the analysis results, the frequency of the C allele in the T2DM group was 31.1%, the T allele - 68.9%; in the control group, the C allele was 38.5%, and the T allele - 61.5%. The distribution of genotypes in the T2DM group was: CC - 9.1%, CT - 43.9%, TT - 47.0%; in the control group: CC - 25.6%, CT - 25.6%, TT - 48.8%. The CT genotype was significantly higher in the T2DM group (p<0.05, χ²=4.28, OR=2.14). According to the analysis of preliminary results, the T allele and CT genotype of the rs1799817 polymorphism of the IR gene were significantly associated with the development of T2DM. This study provides preliminary scientific evidence and contributes to expanding the ethnic and geographic scope of such studies.

Key words: type 2 diabetes mellitus, single nucleotide polymorphisms, insulin, insulin receptor gene, Uzbek population.

First page

127

Last page

134

For citation:Saatov T.S., Ibragimov Z.Z., Abdurahimov S.A., Ibragimova E.A., Shamansurova Z., Ishankhodjaev T.M., Toshtemirov A.E., Bohodirov H.Q., Qiyomov O.A. - INVESTIGATION OF THE GENETIC ASSOCIATION BETWEEN THE rs1799817 POLYMORPHISM OF THE INSULIN RECEPTOR GENE AND THE DEVELOPMENT OF TYPE II DIABETES//New Day in Medicine 11(85)2025 127-134 https://newdayworldmedicine.com/en/new_day_medicine/11-85-2025

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