title: An association between environmental factors and the IVS4+44C>A polymorphism of the DMT1 gene in age-related macular degeneration.
abstract: BACKGROUND
  Age-related macular degeneration (AMD) is an ocular disease affecting macula - the central part of the retina, resulting in the degeneration of photoreceptors and retinal epithelium and causing severe central vision impairment. The pathophysiology of the disease is not completely known, but a significant role is attributed to genetic factors. The contribution of oxidative stress in AMD as a trigger of the degenerative process is well-established. Iron ions may act as a source of reactive oxygen species; therefore, maintaining iron homeostasis is important for redox balance in the organism. Diversity in iron homeostasis genes may counterpart in unbalanced redox state, and thus be involved in AMD pathophysiology.
  
  
  METHODS
  In this work, we searched for an association between some single nucleotide polymorphisms in the divalent metal transporter 1 (DMT1) gene intronic IVS4+44C>A (rs224589) and 3'-UTR c.2044T>C (rs2285230) and environmental factors and AMD. Genotyping was performed using the PCR-RFLP method. DNA was obtained from 436 AMD patients and 168 controls.
  
  
  RESULTS
  We did not find any association between the genotypes of the two polymorphisms and AMD occurrence. However, we observed that AMD patients living in a rural environment and having the CC genotype of the IVS4+44C>A polymorphism had an increased risk of AMD, while individuals with the CA genotype or the A allele had a decreased risk of the disease. Moreover, in male AMD patients the C allele increased the risk of the disease, while the AA genotype decreased it.
  
  
  CONCLUSIONS
  These results suggest that the VS4+44C>A polymorphism of the DMT1 gene may interact with place of living and gender to modulate the risk of AMD.
authors.affiliation: Department of Molecular Genetics, University of Lodz, Pomorska 141/143, Lodz, Poland.
authors.forename: Daniel
authors.initials: D
authors.lastname: Wysokinski
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Zaras
authors.forename: Mariola
authors.initials: M
authors.lastname: Dorecka
authors.forename: Maja
authors.initials: M
authors.lastname: Waszczyk
authors.forename: Jerzy
authors.initials: J
authors.lastname: Szaflik
authors.forename: Janusz
authors.initials: J
authors.lastname: Blasiak
authors.forename: Jacek P
authors.initials: JP
authors.lastname: Szaflik
mesh_terms: D027682:Cation Transport Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D059647:Gene-Environment Interaction; D005838:Genotype; D057092:Geographic Atrophy / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012424:Rural Population; D011795:Surveys and Questionnaires; D041623:Tomography, Optical Coherence; D014505:Urban Population; D057135:Wet Macular Degeneration / Q000175:diagnosis / Q000235:genetics*; D000099236:Solute Carrier Family 11, Member 2
chemical_list: D027682:Cation Transport Proteins; D000099236:Solute Carrier Family 11, Member 2