Analysis of the Mutation Frequency of the Genes Associated With Diabetic Retinopathy in the Volga Region

Iskhakova, A.G.; Toropovskiy, A. N.; Золотарев, А. В.; Pavlova, O.N.; Комарова, М В; Viktorov, D. A.

doi:10.17513/spno.29283

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“…Li et al in the Chinese population did not find significant differences in the genotype distributions of BglII polymorphism between the DR patients and the T2DM patients with disease duration of more than 10 years but without complications in the fundus [ 36 ]. Iskhakova et al found no association of BglII polymorphism with DR among T2DM patients in the Volga region population, most (84%) of which were Russians [ 37 ].…”

Section: Discussionmentioning

confidence: 99%

ITGA2 Gene Polymorphism Is Associated with Type 2 Diabetes Mellitus in the Kazakhstan Population

et al. 2022

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Background and Objectives: Nowadays, every tenth adult in the world suffers from diabetes mellitus (DM). Diabetic retinopathy (DR) is the most common microvascular complication of type 2 DM (T2DM) and a leading cause of acquired blindness in middle-aged individuals in many countries. Previous studies have identified associations of several gene polymorphisms with susceptibility to microvascular complications of DM in various worldwide populations. In our study, we aimed to test the hypothesis of the associations of single nucleotide polymorphisms (SNP) of the VEGF (−2549I/D), RAGE (−429T/C and −374T/A), TCF7L2 (rs7903146), and ITGA2 (BglII) genes with a predisposition to DR among T2DM patients in the Kazakhstan population. Materials and Methods: We conducted a case–control study comparing the genotype distribution and allele frequencies between groups of DR patients (N = 94), diabetic patients without DR (N = 94), and healthy controls (N = 51). Genotypes were identified using the PCR-RFLP method. Results: In all cases, the genotype distribution corresponded to the Hardy–Weinberg equilibrium. The groups of diabetic patients with and without DR did not significantly differ in the genotype distribution of the SNPs studied. Differences between both groups of diabetic patients and healthy controls in four out of five SNPs were also not significant. At the same time, both groups of diabetic patients differed significantly from healthy controls in genotype distribution (p = 0.042 and 0.005, respectively) and allele frequencies (p = 0.021 and 0.002, respectively) of the BglII polymorphism in the ITGA2 gene. After adjusting for multiple comparisons, the differences between the group of diabetic patients without DR and the control group remained significant (pBonf = 0.027 for genotypes and pBonf = 0.009 for alleles). The BglII− allele was associated with diabetes: OR = 1.81 [1.09–2.99] for DR patients, and OR = 2.24 [1.34–3.75] for diabetic patients without DR. The association was also observed in the subset of Kazakhs. Conclusions: This study shows that the BglII polymorphism in the ITGA2 gene can be associated with T2DM but not with DR. According to our data, the risk allele for diabetes is the wild BglII− allele, and not the minor BglII+, which is considered as risky for DR.

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Section: Discussionmentioning

confidence: 99%