Association of CXCL12 and CXCR4 Genes Polymorphism with Proliferative Diabetic Retinopathy in Diabetic Patients

Abstract

Introduction: Patients with diabetes are prone to develop complications related to the retina. So far, several genes have been reported in connection with the progression of retinopathy, and a group of these genes is genes involved in angiogenesis. CXCL12 and CXCR4 genes are among the most important genes in this path, which have been less studied and investigated. The aim of this study was to determine the relationship between polymorphism of CXCL12 (rs1801157) and CXCR4 (rs2228014) genes and the risk of proliferative diabetic retinopathy in the population of Yazd City.
 Methods: In the present case-control study, rs2228014 and rs1801157 polymorphisms were investigated among 103 patients with diabetes in two groups, case and control. In this study, the control group included 49 diabetic patients who did not show retinopathy complications, and the case group consisted of 54 diabetic patients with proliferative retinopathy complications. The Genotyping of rs2228014 polymorphism was examined by ARMS-PCR method and rs1801157 variant by RFLP-PCR technique. The statistical analysis of data was conducted using SPSS software version 16 and chi-square test.
 Results: Our results represented no association among the rs1801157 and rs2228014 polymorphisms and the risk of proliferative diabetic retinopathy (P>0.05).
 Conclusion: This study did not confirm association of the rs1801157 and rs2228014 polymorphisms with proliferative diabetic retinopathy and further studies are required to investigate the correlation of polymorphisms of interest with PDR.

Association of SDF-1 and its receptor CXCR4 polymorphisms on the susceptibility of diabetic retinopathy in the Taiwanese population

“…A previous study reported that homozygous carriers of SDF-1 3′A genotype are associated with the risk of PDR (Djuric et al, 2010). However, Gharibi et al indicated no association among SDF-1 SNP rs1801157 and CXCR4 SNP rs2228014 polymorphisms and the risk of PDR in Iran population (Gharibi et al, 2022). Despite several studies having investigated the functional role of SDF-1 and…”

“…In one in vitro study, treatment with high glucose on human retinal vascular endothelial cells (hRVECs) increased the protein levels of SDF-1 and CXCR4, and the CXCR4 antagonist inhibited the expression levels of angiogenesis-associated proteins in hRVECs (Wu et al, 2019). Moreover, the polymorphism of the SDF-1 and CXCR4 gene are already known to be associated with the development of DR (Djuric et al, 2010;Gharibi et al, 2022). A previous study reported that homozygous carriers of SDF-1 3′A genotype are associated with the risk of PDR (Djuric et al, 2010).…”