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. 2012 Jul;250(7):1057-65.
doi: 10.1007/s00417-012-1966-z. Epub 2012 Feb 29.

An association between environmental factors and the IVS4+44C>A polymorphism of the DMT1 gene in age-related macular degeneration

Daniel Wysokinski  1 , Malgorzata Zaras, Mariola Dorecka, Maja Waszczyk, Jerzy Szaflik, Janusz Blasiak, Jacek P Szaflik
Affiliations

An association between environmental factors and the IVS4+44C>A polymorphism of the DMT1 gene in age-related macular degeneration

Daniel Wysokinski et al. Graefes Arch Clin Exp Ophthalmol. 2012 Jul.

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.

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Figures

Fig. 1
Fig. 1
The frequent gel from the IVS4+44C>A polymorphism analysis. The first line (M) is a DNA ladder. Two non-specific bands were visible on all gels from IVS4+44C>A site analysis
Fig. 2
Fig. 2
The frequent gel from the c.2044T>C polymorphism analysis. The first line (M) is a DNA ladder
See this image and copyright information in PMC

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