Genome-wide association study of population-standardised cognitive performance phenotypes in a rural South African community.

Journal: Communications biology

Volume: 6

Issue: 1

Year of Publication: 2023

Affiliated Institutions:  Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. cassandra.soo@wits.ac.uk. Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. MRC/Wits Rural Public Health and Health Transitions Research Unit, School of Public Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. ananyo.choudhury@wits.ac.za.

Abstract summary 

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.

Authors & Co-authors:  Soo Cassandra C CC Brandenburg Jean-Tristan JT Nebel Almut A Tollman Stephen S Berkman Lisa L Ramsay Michèle M Choudhury Ananyo A

Study Outcome 

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Statistics
Citations :  Srinivasan, S. et al. Enrichment of genetic markers of recent human evolution in educational and cognitive traits. Sci. Rep. 8, 12585 (2018).
Authors :  7
Identifiers
Doi : 328
SSN : 2399-3642
Study Population
Male,Female
Mesh Terms
Genome-Wide Association Study
Other Terms
Study Design
Cross Sectional Study
Study Approach
Country of Study
South Africa
Publication Country
England