Sunderaraman Preeti, Cosentino Stephanie, Schupf Nicole, Manly Jennifer, Gu Yian, Barral Sandra
Cognitive Neuroscience Division of the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, G.H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, United States.
Front Genet. 2021 Jul 27;12:642327. doi: 10.3389/fgene.2021.642327. eCollection 2021.
Myocyte Enhancer Factor 2C () is identified as a candidate gene contributing to the risk of developing Alzheimer's disease. However, little is known about whether plays a role in specific aspects of cognition among older adults. The current study investigated the association of common variants in the gene with four cognitive domains including memory, visuospatial functioning, processing speed and language among non-demented individuals.
Participants from two ethnic groups, Non-Hispanic White (NHW; = 537) and Caribbean Hispanic (CH; = 1,197) from the Washington Heights-Inwood Community Aging Project ( study, were included. Genetic association analyses using WHICAP imputed genome-wide data (GWAS) were conducted for the various cognition domains.
Single nucleotide polymorphisms (SNP) variants in the gene showed nominally significant associations in all cognitive domains but for different SNPs across both the ethnic groups. In NHW participants, the strongest associations were present for memory (rs302484), language (rs619584), processing speed (rs13159808), and visuospatial functioning (several SNPs). In CH, strongest associations were observed for memory (rs34822815), processing speed (rs304141), visuospatial functioning (rs10066711 and rs10038371), and language (rs304153).
MEF2C variant-cognitive associations shed light on an apparent role for in both memory and non-memory aspects of cognition in individuals from NHW and CH ancestries. However, the little overlap in the specific SNP-cognition associations in CH versus NHW highlights the differences in genetic architectural variations among those from different ancestries that should be considered while studying the gene.
肌细胞增强因子2C(MEF2C)被确定为与患阿尔茨海默病风险相关的候选基因。然而,对于MEF2C在老年人认知的特定方面是否起作用,人们知之甚少。本研究调查了非痴呆个体中MEF2C基因常见变异与四个认知领域(包括记忆、视觉空间功能、处理速度和语言)之间的关联。
纳入了来自华盛顿高地-因伍德社区老龄化项目(WHICAP研究)的两个种族群体的参与者,即非西班牙裔白人(NHW;n = 537)和加勒比西班牙裔(CH;n = 1,197)。对各种认知领域进行了使用WHICAP估算的全基因组数据(GWAS)的遗传关联分析。
MEF2C基因中的单核苷酸多态性(SNP)变异在所有认知领域均显示出名义上的显著关联,但两个种族群体中的SNP不同。在NHW参与者中,记忆(rs302484)、语言(rs619584)、处理速度(rs13159808)和视觉空间功能(多个SNP)方面存在最强的关联。在CH中,记忆(rs34822815)、处理速度(rs304141)、视觉空间功能(rs10066711和rs10038371)和语言(rs304153)方面观察到最强的关联。
MEF2C变异与认知的关联揭示了MEF2C在NHW和CH血统个体的记忆和非记忆认知方面的明显作用。然而,CH与NHW中特定SNP与认知关联的重叠很少,这突出了不同血统个体之间遗传结构变异的差异,在研究MEF2C基因时应予以考虑。