Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Commun Biol. 2023 Mar 27;6(1):328. doi: 10.1038/s42003-023-04636-1.
Cognitive function is an indicator for global physical and mental health, and cognitive impairment has been associated with poorer life outcomes and earlier mortality. A standard cognition test, adapted to a rural-dwelling African community, and the Oxford Cognition Screen-Plus were used to capture cognitive performance as five continuous traits (total cognition score, verbal episodic memory, executive function, language, and visuospatial ability) for 2,246 adults in this population of South Africans. A novel common variant, rs73485231, reached genome-wide significance for association with episodic memory using data for ~14 million markers imputed from the H3Africa genotyping array data. Window-based replication of previously implicated variants and regions of interest support the discovery of African-specific associated variants despite the small population size and low allele frequency. This African genome-wide association study identifies suggestive associations with general cognition and domain-specific cognitive pathways and lays the groundwork for further genomic studies on cognition in Africa.
认知功能是衡量整体身心健康的指标，认知障碍与较差的生活结局和更早的死亡率相关。我们使用了一种经过改良、适用于非洲农村社区的认知功能标准测试，以及牛津认知筛查-Plus，以连续五种特征（总认知评分、词语情节记忆、执行功能、语言和视空间能力）来评估 2246 名南非成年人的认知表现。一项新的常见变异 rs73485231 与情节记忆显著相关，这是使用来自 H3Africa 基因分型阵列数据的约 1400 万个标记进行全基因组关联分析得出的结果。基于窗口的先前涉及的变异和感兴趣区域的复制支持了非洲特异性相关变异的发现，尽管人口规模小且等位基因频率低。这项非洲全基因组关联研究确定了与总体认知和特定领域认知途径的提示性关联，并为非洲认知的进一步基因组研究奠定了基础。
