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Investigation of ARMS2 and CFH Polymorphisms Associated with Age-Related Macular Degeneration in Alzheimer’s Disease Patients. A Greek Cohort Study

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  • Kroupis C

    (Department of Clinical Biochemistry and Molecular Diagnostics, Attikon University General Hospital, Medical School, National and Kapodistrian University of Athens, Chaidari, Greece)

Abstract

Age-related macular degeneration (AMD) is a degenerative eye disease leading to significant loss of central vision. A strong association with the disease has been identified worldwide for two common coding single nucleotide polymorphisms (SNPs): A69S (rs10490924) of the ARMS2 gene involved in oxidative stress-dependent damage to the retinal photoreceptors and Y402H (rs1061170) of the complement factor H (CFH) gene involved in innate immunity. These two SNPs explain about 25% of cases of AMD. In recent literature, a link between AMD and Alzheimer’s disease (AD) has been postulated. Indeed, the possibility of early diagnosis of cognitive degeneration of the brain in AD is suggested by using non-invasive optical coherence tomography (OCT) in the retina. We aimed the investigation of the possible association between AMD and AD, as attributed by the analysis of the two aforementioned SNPs.

Suggested Citation

  • Kroupis C, 2023. "Investigation of ARMS2 and CFH Polymorphisms Associated with Age-Related Macular Degeneration in Alzheimer’s Disease Patients. A Greek Cohort Study," Biomedical Journal of Scientific & Technical Research, Biomedical Research Network+, LLC, vol. 49(5), pages 40986-40992, April.
    • Handle: RePEc:abf:journl:v:49:y:2023:i:5:p:40986-40992
    DOI: 10.26717/BJSTR.2023.49.007855
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