Table_3_The Relationship Between Cognitive Status and Known Single Nucleotide Polymorphisms in Age-Related Macular Degeneration.DOCX

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.

近期已有文献报道，与视力正常的老年人相比，年龄相关性黄斑变性（Age-related Macular Degeneration, AMD）患者的认知障碍发生率更高。本先导性研究探讨了AMD相关单核苷酸多态性（single nucleotide polymorphisms, SNPs）与认知状态之间的潜在关联。研究对21名AMD患者与18名健康对照者的CFHY402H、ARMS2A69S及FADS1 rs174547三个SNPs位点进行了基因分型。采用蒙特利尔认知评估量表（Montreal Cognitive Assessment, MoCA）对受试者的认知状态进行评估。两组在最难完成的认知亚量表上存在显著差异：健康对照组仅在延迟回忆项存在困难，而AMD患者除延迟回忆项外，还在抽象思维与定向力项存在障碍。携带FADS1 rs174547 SNP纯合基因型的受试者，其MoCA得分显著低于杂合基因型携带者或非携带者。研究结果表明，FADS1 SNP可能在视力损伤与认知损伤共病进程中发挥作用，具体体现为：与仅携带1个或不携带该SNP等位基因的AMD患者相比，携带纯合基因型的AMD患者认知得分更低。