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

Authors: Murphy CJohnson APKoenekoop RKSeiple WOverbury O


Affiliations

1 Low Vision Lab, School of Optometry, University of Montreal, Montreal, QC, Canada.
2 Concordia Vision Labs, Department of Psychology, Concordia University, Montreal, QC, Canada.
3 Centre for Interdisciplinary Research in Rehabilitation of Greater Montreal (CRIR)/Centre de Réadaptation Lethbridge-Layton-Mackay du Centre Intégré Universitaire de Santé et de Services Sociaux du Centre-Ouest-de-l'Ile-de-Montréal (CIUSSS) du Centre-Ouest-de-l'Île-de-Montréal, Montreal, QC, Canada.
4 Paediatric Surgery and Human Genetics and Ophthalmology, Faculty of Medicine, McGill University Health Centre, Montreal QC, Canada.
5 Arlene R. Gordon Research Institute, Lighthouse Guild, New York, NY, United States.
6 School of Medicine, New York University, New York, NY, United States.
7 Lady

Description

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.

PMID: 33178008 [PubMed]


Keywords: age-related macular degenerationage-related maculopathy susceptibility gene 2complement factor Hfatty acid desaturase 1geneticslow visionmild cognitive impairment


Links

PubMed: https://www.ncbi.nlm.nih.gov/pubmed/33178008

DOI: 10.3389/fnagi.2020.586691