An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population

ABSTRACT

Background

Diabetic retinopathy (DR) occurs due to high blood glucose damage to the retina and leads to blindness if left untreated. KATP and related genes (KCNJ11 and ABCC8) play an important role in insulin secretion by glucose-stimulated pancreatic beta cells and the regulation of insulin secretion. KCNJ11 E23K (rs5219), ABCC8–3 C/T (rs1799854), Thr759Thr (rs1801261) and Arg1273Arg (rs1799859) are among the possible related single nucleotide polymorphisms (SNPs). The aim of this study is to find out how DR and these SNPs are associated with one another in the Turkish population.

Materials and methods

This study included 176 patients with type 2 diabetes mellitus without retinopathy (T2DM-rp), 177 DR patients, and 204 controls. Genomic DNA was extracted from whole blood, and genotypes were determined by the PCR-RFLP method.

Results

In the present study, a significant difference was not found between all the groups in terms of Arg1273Arg polymorphism located in the ABCC8 gene. The T allele and the TT genotype in the −3 C/T polymorphism in this gene may have a protective effect in the development of DR (p = 0.036 for the TT genotype; p = 0.034 for T allele) and PDR (p = 0.042 and 0.025 for the TT genotype). The AA genotype showed a significant increase in the DR group compared to T2DM-rp in the KCNJ11 E23K polymorphism (p = 0.046).

Conclusions

Consequently, the T allele and TT genotype in the −3 C/T polymorphism of the ABCC8 gene may have a protective marker on the development of DR and PDR, while the AA genotype in the E23K polymorphism of the KCNJ11 gene may be effective in the development of DR in the Turkish population.

KEYWORDS:

• ABCC8
• KCNJ11
• diabetic retinopathy
• polymorphism
• RFLP

Acknowledgments

This study was supported by Giresun University Research Fund – Project Code Number SAĞ-BAP-A-101016-144. We would like to thank Dr Ugur BAYRAM for his valuable assistance during the sample collection stage.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Supplementary material

Supplemental data for this article can be accessed online at https://doi.org/10.1080/13816810.2024.2317279.

Additional information

Funding

This study was supported by the Scientific Research Projects Committee of Giresun University [project number: SAĞ-BAP-A-101016-144].