Study on insulin gene rs689 polymorphism in patients with diabetic neuropathy

Talat Saatov; Sunnatilla Abdurakhimov; Zafar Ibragimov; Elvira Ibragimova; Zulaykho Shamansurova; Gulnora Artykbaeva; Tokhir Ishankhodjaev; Abdunabi Tashtemirov

doi:10.1530/endoabs.110.EP386

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Endocrine Abstracts (2025) 110 EP386 | DOI: 10.1530/endoabs.110.EP386

ECEESPE2025 ePoster Presentations Diabetes and Insulin (245 abstracts)

Study on insulin gene rs689 polymorphism in patients with diabetic neuropathy

Talat Saatov ¹ , Sunnatilla Abdurakhimov ¹ , Zafar Ibragimov ¹ , Elvira Ibragimova ¹ , Zulaykho Shamansurova ² , Gulnora Artykbaeva ¹ , Tokhir Ishankhodjaev ¹ & Abdunabi Tashtemirov ¹

Author affiliations

¹Institute of biophysics and biochemistry under Mirzo Ulugbek National University of Uzbekistan, lab of metabolomics, Tashkent, Uzbekistan; ²2. Central Asian University Medical School Endocrinology, Tashkent, Uzbekistan

JOINT1393

Diabetic neuropathy (DN) is one of the most common complications affecting more than 67% of patients with diabetes. In this regard, identifying genetic markers of the risk of developing DN is of great importance for the early diagnosis of this disease. The relationship between the rs689 polymorphism of the insulin gene and the development of diabetic neuropathy was studied.

Materials and Methods: The study included 2 groups: the main group was patients with DN and the control group - people without signs of DN. To study the rs689 polymorphism of the INS gene, we used a modified allele-specific PCR method. Genotyping was carried out using a programmable thermal cycler Applied Biosistems-2720 (USA).

Results and Discussion: Our findings demonstrated that the genotype distribution for rs 689 polymorphic locus of the INS gene in DN and control complied with Hardy -Weiberg equilibrim. The frequency of occurrence of the wild A allele of the INS gene in the main and control groups was 72.7% and 83.3%, respectively. The unfavorable T allele was less common in the population sample compared to the main group (16.7% and 27.3%, respectively). An analysis of the distribution of genotypes revealed that the most common genotype among the examined groups was the homozygous genotype AA (51.5% in the group with DN and 69.2% in the control group). The frequency of the heterozygous AT genotype in the sample of patients and in the control group was 42.4% and 28.2%, respectively. The distribution frequencies of the TT genotype in patients with DN are 6.1%, in the control group 2.6%, respectively. The ratio of allele frequencies and genotypes by polymorphic variant for patients with DN showed a statistically significant increase in the risk of developing this disease in carriers of the T allele (RR=1.64; 95% CI: 1.05–2.56, χ2=4.76; P = 0.029), AT genotypes (RR= 1.56; 95% CI: 1.0–2.44, χ2=3.89; P = 0.049), TT (RR= 2.95; 95% CI: 0.57–15.3, χ2=1.85; P = 0.18). From the results obtained, it follows that carriers of the T allele and AT genotypes have an increased risk of developing DN, while carriers of the A allele and A/A genotype have a reduced risk of developing the disease. The findings may have important clinical implications for predicting the risk of developing diabetic neuropathy.