Association betweenBsm1Polymorphism in Vitamin D Receptor Gene and Diabetic Retinopathy of Type 2 Diabetes in Korean Population

Abstract

BackgroundType 2 diabetes is one of the most common diseases with devastating complications. However, genetic susceptibility of diabetic complications has not been clarified. The vitamin D endocrine system is related with calcification and lipolysis, insulin secretion, and may be associated with many complicated disease including diabetes and cardiovascular disease. Recent studies reported that single nucleotide polymorphisms of vitamin D receptor (VDR) gene were associated with diabetic complications.MethodsIn present study, we evaluated the association of BsmI polymorphism of VDR with diabetic complications in Korean diabetes patients. Total of 537 type 2 diabetic subjects from the Endocrinology Clinic of Chungbuk National University Hospital were investigated. Polymerase chain reaction-restriction fragment length polymorphism was used to test the genotype and allele frequency of BsmI (rs1544410; BB, Bb, bb) polymorphisms.ResultsMean age was 62.44±10.64 years and mean disease duration was 13.65±7.39 years. Patients with B allele (BB or Bb) was significantly associated with lower risk of diabetic retinopathy (severe non-proliferative diabetic retinopathy or proliferative retinopathy; 7.4%, 5/68) compared with patients without B allele (bb; 17.3%, 81/469; P=0.035). This association was also significant after adjusting for hemoglobin A1c level, body mass index, age, sex, and diabetes mellitus duration, concurrent dyslipidemia and hypertension (odds ratio, 2.99; 95% confidence interval, 1.08 to 8.29; P=0.035) in logistic regression analysis.ConclusionOur findings suggest that B allele of Bsm1 polymorphism in VDR gene is associated with lower risk of diabetic retinopathy in type 2 diabetic patients. Bsm1 genotype could be used as a susceptibility marker to predict the risk of diabetes complication.

The Association between VDR Gene Polymorphisms and Diabetic Retinopathy Susceptibility: A Systematic Review and Meta-Analysis

“…One abstract from conference was excluded. One article was excluded owing to lack of complete data (we tried to contact the author by email and had no response until we submitted our study) [12]. One article was excluded for departure from HWE in the control group [13].…”

“…Although these polymorphisms had been reported to be associated with reduced steady state VDR mRNA [26], no association with risk of DR was observed in this meta-analysis. One study in Korean type 2 diabetes patients found that patients with B allele (BB or Bb) of BsmI polymorphism had significant association with lower risk of DR (severe nonproliferative DR or proliferative DR; 7.4%, 5/68) compared with patients without B allele (bb; 17.3%, 81/469; P = 0.035) [12]. However, for deficiency of complete data, this study was not included in our meta-analysis.…”

The Association between Vitamin D Deficiency and Diabetic Retinopathy in Type 2 Diabetes: A Meta-Analysis of Observational Studies

“…Active vitamin D mediates its biological function by binding to vitamin D receptors. Vitamin D receptors have been found to be associated with insulin secretion and sensitivity, and have been identified in pancreatic beta cells [41]. Additionally, some genes associated with the development of diabetic retinopathy have been found, such as Bsm1 , rs2228570 , and TT .…”

“…What is more, proof of the VDR polymorphisms related with diabetic retinopathy was found. Hong et al showed that patients with the B allele (BB or Bb) of Bsm1 polymorphism in VDR were associated with lower risk of diabetic retinopathy compared to patients without the B allele (bb) in Korean type 2 diabetic patients [41]. Bucan et al showed that the bb genotype in VDR has a higher risk of developing diabetic retinopathy [43].…”

Diabetic macular oedema: under‐represented in the genetic analysis of diabetic retinopathy

“…Hong et al. () analysed rs1544410 in their Korean patient cohort and found an association with DR; however, the classification of retinopathy was not clear in their report.…”