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

Published Feb 29, 2012Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Environmental factors linked to a DMT1 gene variant in age-related macular degeneration

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Abstract

Among 436 AMD patients, living in a rural environment and having the CC genotype of the DMT1 gene polymorphism is associated with an increased risk of age-related macular degeneration.

No significant association was found between the genotypes of the DMT1 gene polymorphisms and the occurrence of AMD.
AMD patients with the CC genotype of the IVS4+44C>A polymorphism may have a higher risk of AMD when living in rural areas.
Individuals with the CA genotype or A allele of the same polymorphism may have a decreased risk of developing AMD.
In male AMD patients, the presence of the C allele may increase the risk of the disease, while the AA genotype may decrease it.
The findings suggest interactions between genetic factors, living environment, and gender in relation to AMD risk.

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

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