Abstract
ObjectiveThis study aimed to explore the association of insulin-like growth factor 1 gene (IGF1) polymorphisms with diabetic retinopathy (DR) in a Chinese Han population.MethodsPolymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for genotyping. Genotype frequencies were compared by chi-square test. Odds ratio (OR) with 95% confidence interval (95%CI) was calculated to express the risk intensity of DR. Linkage disequilibrium between IGF1 polymorphisms was analyzed by Haploview. Serum IGF1 concentration was measured by enzyme-linked immunosorbent assays (ELISA) and assessed by student's t test.ResultsAG genotype of rs6218 and TT genotype of rs35767 were significantly associated with the elevated risk of DR (rs6218: OR=1.77, P=0.04; rs35767: OR=2.32, P=0.03) and type II diabetes mellitus (T2DM) (rs6218: OR=1.92, P=0.00. rs35767: OR=2.29, P=0.02). Only T allele of rs35767 significantly increased the risk of DR (OR=1.45, P=0.04), however, rs6218 (OR=1.92, P=0.00), rs35767 (OR=0.02, P=0.02) and rs5742612 (OR=2.21, P=0.04) showed obvious association with T2DM. Haplotypes were only associated with T2DM, but not DR. Minor allele homozygote of rs35767 was obviously correlated with serum IGF1 level.ConclusionIGF1 rs6218 and rs35767 polymorphisms contribute to the risk of DR. IGF1 rs35767 polymorphism may participate in the regulation of serum IGF1 concentration in DR.
Highlights
Diabetic retinopathy (DR) is a serious microvascular complication of diabetes mellitus (DM)
AG genotype of rs6218 and TT genotype of rs35767 were significantly associated with the elevated risk of DR and type II diabetes mellitus (T2DM)
T allele of rs35767 significantly increased the risk of DR (OR=1.45, P=0.04), rs6218 (OR=1.92, P=0.00), rs35767 (OR=0.02, P=0.02) and rs5742612 (OR=2.21, P=0.04) showed obvious association with type 2 diabetes mellitus (T2DM)
Summary
Diabetic retinopathy (DR) is a serious microvascular complication of diabetes mellitus (DM). The disease is characterized by progressive retinal degeneration, representing a leading cause of blindness in adults [1,2,3]. The prevalence of DM was 285 million in the world in 2010, over one third of cases had developed DR [4]. Almost all type I DM (T1DM) cases and over 60% type II DM (T2DM) patients develop DR [5]. Investigating the pathogenesis of DR and symptomatic treatments are necessary and urgent nowadays. Poor control of blood glucose, blood pressure, diabetes duration are the important risk factors of DR development and progression [7, 8]. Some DM patients with optimum glycemic control still develop DR [9], suggesting individually genetic factors are crucial elements of DR occurrence
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