Open AccessGenetic markers for proliferative diabetic retinopathy in type 2 diabetes
Author(s) -
GLOBOCNIK PETROVIC M,
HAWLINA M,
PETERLIN BORUT,
PETROVIC D
Publication year - 2007
Publication title -
acta ophthalmologica scandinavica
Language(s) - English
Resource type - Journals
eISSN - 1600-0420
pISSN - 1395-3907
DOI - 10.1111/j.1600-0420.2007.01063_3483.x
Subject(s) - medicine , aldose reductase , type 2 diabetes , diabetic retinopathy , diabetes mellitus , genotype , confidence interval , odds ratio , retinopathy , endocrinology , gastroenterology , genetics , gene , biology
Purpose: The purpose of this cross–sectional study was to define genetic markers of advanced proliferative diabetic retinopathy in patients with type 2 diabetes. Methods: In retrospective study 186‐386 unrelated Caucasians with type 2 diabetes were enrolled and divided into 2 groups: advanced PDR (diabetics with PDR in wich vitrectomy was performed) and control group (diabetics with duration of diabetes of more than 15 years, without retinopathy). The PCR was used to analyse candidate genes: gene polymorphism G‐174C of the interleukin –6 (IL‐ 6), ‐553 T/A, –834 T/A and ‐921 C/G of the beta fibroblast growth factor (BFGF), 634 C/G and –2549 insertion/deletion of the vascular endothelial growth factor (VEGF), (AC)n of the aldose reductase, K469E of the intercellular adhesion molecule (ICAM), Bgl II of the α2β1 integrin, –429 T/C and –374T/A of the receptor of advanced glycation end products (RAGE) and mutations C282Y and H63D of the hemochromatosis. Results: Genetic risk factors for PDR in Caucasians with type 2 diabetes were the alele Z‐2 of the aldose reductase (AC)n gene polymorphism (OR 2.0, 95% confidence interval 1.4‐3.8; p = 0.03), the C282Y mutation of the hemochromatosis gene (OR = 3.0, 95 % confidence interval = 1.2‐8.0; p = 0.02) and the genotype EE of the E/K ICAM polymorphism (OR 2.3, 95% confidence interval 1.1‐4.7; p = 0.025). We failed to demonstrate other tested gene polymorphisms as genetic risk factors for PDR in Caucasians with type 2 diabetes. Conclusions: Gene polymorphisms of the aldose reductase, the ICAM, and the hemochromatosis mutations could be used as genetic markers for PDR.