The Relationship Between Cognitive Status and Known Single Nucleotide Polymorphisms in Age-Related Macular Degeneration.

Caitlin Murphy,Robert K Koenekoop,William Seiple,Aaron P Johnson,Olga Overbury

doi:10.3389/fnagi.2020.586691

Abstract

Recent literature has reported a higher occurrence of cognitive impairment among individuals with Age-related Macular Degeneration (AMD) compared to older adults with normal vision. This pilot study explored potential links between single nucleotide polymorphisms (SNPs) in AMD and cognitive status. Individuals with AMD (N = 21) and controls (N = 18) were genotyped for the SNPs CFHY402H, ARMS2A69S and FADS1 rs174547. Cognitive status was evaluated using the Montreal Cognitive Assessment. The two groups differed significantly on which subscales were most difficult. The control group had difficulty with delayed recall while those with AMD had difficulty on delayed recall in addition to abstraction and orientation. Homozygous carriers of the FADS1 rs174547 SNP had significantly lower scores than heterozygotes or non-carriers on the MoCA. The results suggest that the FADS1 SNP may play a role in visual impairment/cognitive impairment comorbidity as reflected in the poorer cognitive scores among homozygotes with AMD compared to those carrying only one, or no copies of the SNP.

Highlights

With the aging of the population, the number of individuals affected by Age-related Macular Degeneration (AMD) is on the rise
The prevalence of mild cognitive impairment (MCI) among participants with AMD was not much higher than controls in this sample, the prevalence is higher than that reported in other normallysighted populations (Gauthier et al, 2006). Those with AMD scoring positive for MCI according to the Montreal Cognitive Assessment (MoCA) had difficulty with different cognitive domains compared to controls scoring positive for MCI
This distribution of cognitive impairment indicates that those with AMD and MCI may be more likely to progress to Alzheimer’s disease (AD) than controls with MCI

Summary

Introduction

With the aging of the population, the number of individuals affected by Age-related Macular Degeneration (AMD) is on the rise. The World Health Organization estimates that ∼ 5–7% of the population aged 60 and SNPs and Cognition in AMD over have some type of cognitive impairment, with the most common type being Alzheimer’s disease (AD) (World Health Organization, 2012; Wortmann, 2012). At the turn of the millennium, large-scale population-based studies began reporting a higher prevalence of cognitive impairment among individuals with AMD (Klaver et al, 1999; Wong et al, 2002). Beta-amyloid (βA), best known as a component of the senile plaques found in the brains of individuals with AD was identified as a component of drusen, the hallmark deposits of AMD (Johnson et al, 2002). Beta-amyloid was found to form similar vesicular structures in senile plaques and drusen (Anderson et al, 2004)

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Conclusion