Genome-wide association study of population-standardised cognitive performance phenotypes in a rural South African community.
Date
2023-03-27
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Abstract
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. Windowbased
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.