title: EPHA2 Polymorphisms in Estonian Patients with Age-Related Cataract.
abstract: BACKGROUND
  Ephrin receptors (Ephs) are tyrosine kinases that together with their ligands, ephrins, are considered important in cell-cell communication, especially during embryogenesis but also for epithelium homeostasis. Studies have demonstrated the involvement of mutations or common variants of the gene encoding Eph receptor A2 (EPHA2), in congenital cataract and in age-related cataract. This study investigated a number of disease-associated single nucleotide polymorphisms (SNPs) in EPHA2 in patients with age-related cataract.
  
  
  METHODS
  The study included 491 Estonian patients who had surgery for age-related cataract, classified as nuclear, cortical, posterior subcapsular and mixed lens opacities, and 185 controls of the same ethnical origin. Seven SNPs in EPHA2 (rs7543472, rs11260867, rs7548209, rs3768293, rs6603867, rs6678616, rs477558) were genotyped using TaqMan Allelic Discrimination. Statistical analyses for single factor associations used χ(2)-test and logistic regression was performed including relevant covariates (age, sex and smoking).
  
  
  RESULTS
  In single-SNP allele analysis, only the rs7543472 showed a borderline significant association with risk of cataract (p = 0.048). Regression analysis with known risk factors for cataract showed no significant associations of the studied SNPs with cataract. Stratification by cataract subtype did not alter the results. Adjusted odds ratios were between 0.82 and 1.16 (95% confidence interval 0.61-1.60).
  
  
  CONCLUSIONS
  The present study does not support a major role of EphA2 in cataractogenesis in an Estonian population.
authors.affiliation: a Department of Clinical Neuroscience and Rehabilitation/Ophthalmology , Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg , Gothenburg , Sweden .
authors.forename: Dragana
authors.initials: D
authors.lastname: Celojevic
authors.affiliation: b Department of Psychiatry and Neurochemistry , Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg , Mölndal , Sweden .
authors.forename: Alexandra
authors.initials: A
authors.lastname: Abramsson
authors.affiliation: b Department of Psychiatry and Neurochemistry , Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg , Mölndal , Sweden .
authors.forename: Mona
authors.initials: M
authors.lastname: Seibt Palmér
authors.affiliation: c Department of Human Biology and Genetics , Institute of General and Molecular Pathology, University of Tartu , Tartu , Estonia , and.
authors.forename: Gunnar
authors.initials: G
authors.lastname: Tasa
authors.affiliation: c Department of Human Biology and Genetics , Institute of General and Molecular Pathology, University of Tartu , Tartu , Estonia , and.
authors.forename: Erkki
authors.initials: E
authors.lastname: Juronen
authors.affiliation: b Department of Psychiatry and Neurochemistry , Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg , Mölndal , Sweden .|d UCL Institute of Neurology, Queen Square , London , UK.
authors.forename: Henrik
authors.initials: H
authors.lastname: Zetterberg
authors.affiliation: a Department of Clinical Neuroscience and Rehabilitation/Ophthalmology , Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg , Gothenburg , Sweden .
authors.forename: Madeleine
authors.initials: M
authors.lastname: Zetterberg
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000375:Aging; D002386:Cataract / Q000235:genetics*; D004957:Estonia; D005260:Female; D005787:Gene Frequency; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D036104:Receptor, EphA2 / Q000235:genetics*; D012307:Risk Factors
chemical_list: D036104:Receptor, EphA2
keywords: Cataract; EPHA2; single nucleotide polymorphisms