title: The rs6060566 of the reactive oxygen species modulator 1 (Romo-1) gene affects Romo-1 expression and the development of diabetic retinopathy in Caucasians with type 2 diabetes.
abstract: OBJECTIVE
  The aim of this study was to examine the role of the rs6060566 polymorphism of the reactive oxygen species modulator 1 (Romo-1) gene in the development of diabetic retinopathy (DR) in Caucasians with type 2 diabetes (T2DM). Moreover, another aim was to investigate the effect of Romo-1 genotypes on Romo-1 expression in fibrovascular membranes from patients with proliferative DR.
  
  
  METHODS
  A total of 806 subjects with T2DM were enrolled in cross-sectional case-control study: 278 patients with DR and 528 subjects without clinical signs of DR. Genetical analysis was performed in 806 subjects with T2DM. Moreover, immunohistochemical analysis of 40 fibrovascular membranes of patients with proliferative DR was performed. The number of positive (labelled) cells per area - numerical areal density of the Romo-1-positive cells (the number of positive cells/mm(2) ) - was calculated.
  
  
  RESULTS
  A significantly higher frequency of the CC genotype of the rs6060566 polymorphism of the Romo-1 gene was found in subjects with T2DM with DR compared to those without DR (odds ratio=3.3, 95% confidence interval=1.1-8.8; p = 0.024). Moreover, the Romo-1 C allele was found to effect Romo-1 expression in fibrovascular membranes of patients with proliferative DR.
  
  
  CONCLUSIONS
  The rs6060566 polymorphism of the Romo-1 gene was found to be an independent risk factor for DR in Caucasians with T2DM. Moreover, the rs6060566 is most probably functional and its effect might be mediated through the increased expression of Romo-1 in the retina.
authors.affiliation: Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
authors.forename: Mojca Globocnik
authors.initials: MG
authors.lastname: Petrovic
authors.affiliation: Department of Cardiovascular Diseases, International Clinical Research Center, St Anne's University Hospital and Masaryk University, Brno, Czech Republic.
authors.forename: Peter
authors.initials: P
authors.lastname: Kruzliak
authors.affiliation: Institute of Histology and Embryology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
authors.forename: Daniel
authors.initials: D
authors.lastname: Petrovic
mesh_terms: D000368:Aged; D001786:Blood Glucose / Q000378:metabolism; D016022:Case-Control Studies; D003404:Creatinine / Q000097:blood; D003430:Cross-Sectional Studies; D003924:Diabetes Mellitus, Type 2 / Q000208:ethnology / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation / Q000502:physiology*; D005838:Genotype; D060005:Genotyping Techniques; D006442:Glycated Hemoglobin / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D008055:Lipids / Q000097:blood; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D018384:Oxidative Stress; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D044465:White People / Q000235:genetics*
chemical_list: D001786:Blood Glucose; D003404:Creatinine; D006442:Glycated Hemoglobin; D008055:Lipids; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C513338:ROMO1 protein, human; C517652:hemoglobin A1c protein, human
keywords: Romo-1 expression; diabetic retinopathy; fibrovascular membranes; genetic risk factor; rs6060566 polymorphism of the Romo-1 gene