Genetic polymorphism of the iron-regulatory protein-1 and -2 genes in age-related macular degeneration

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• 作者：Ewelina Synowiec (1)
  Magdalena Pogorzelska (1)
  Janusz Blasiak (12)
  Jerzy Szaflik (2)
  Jacek Pawel Szaflik (2) szaflik@ophthalmology.pl
• 关键词：Age ; related macular degeneration – ; AMD – ; IRP ; 1 and ; 2 – ; Gene polymorphism – ; Iron – ; Oxidative stress – ; Reactive oxygen species – ; Iron ; regulatory proteins
• 刊名：Molecular Biology Reports
• 出版年：2012
• 出版时间：June 2012
• 年：2012
• 卷：39
• 期：6
• 页码：7077-7087
• 全文大小：265.2 KB
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• 作者单位：1. Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland2. Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Sierakowskiego 13, 03-710 Warsaw, Poland
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Life Sciences
  Animal Anatomy, Morphology and Histology
  Animal Biochemistry
  
• 出版者：Springer Netherlands
• ISSN：1573-4978

文摘

Iron can be involved in the pathogenesis of AMD through the oxidative stress because it may catalyze the Haber–Weiss and Fenton reactions converting hydrogen peroxide to free radicals, which can induce cellular damage. We hypothesized that genetic polymorphism in genes related to iron metabolism may predispose individuals to the development of AMD and therefore we checked for an association between the g.32373708 G>A polymorphism (rs867469) of the IRP1 gene and the g.49520870 G>A (rs17483548) polymorphism of the IRP2 gene and AMD risk as well as the modulation of this association by some environmental and life-style factors. Genotypes were determined in DNA from blood of 269 AMD patients and 116 controls by the allele-specific oligonucleotide-restriction fragment length polymorphism and the polymerase chain reaction-restriction fragment length polymorphism. An association between AMD, dry and wet forms of AMD and the G/G genotype of the g.32373708 G>A-IRP1 polymorphism was found (OR 3.40, 4.15, and 2.75). On the other hand, the G/A genotype reduced the risk of AMD as well as its dry or wet form (OR 0.23, 0.21, 0.26). Moreover, the G allele of the g.49520870 G>A-IRP2 polymorphism increased the risk of the dry form of the disease (OR 1.51) and the A/A genotype and the A allele decreased such risk (OR 0.43 and 0.66). Our data suggest that the g.32373708 G>A-IRP1 and g.49520870 G>A-IRP2 polymorphisms may be associated with increased risk for AMD.