Exploring the role of underrepresented populations in polygenic risk scores for neurodegenerative disease risk prediction

Kathryn Step; Carene Anne Alene Ndong Sima; Ignacio Mata; Soraya Bardien

doi:10.3389/fnins.2024.1380860

Exploring the role of underrepresented populations in polygenic risk scores for neurodegenerative disease risk prediction

Front Neurosci. 2024 May 27:18:1380860. doi: 10.3389/fnins.2024.1380860. eCollection 2024.

Authors

Kathryn Step¹, Carene Anne Alene Ndong Sima¹, Ignacio Mata², Soraya Bardien^{1

3}

Affiliations

¹ Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
² Genomic Medicine, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH, United States.
³ South African Medical Research Council/Stellenbosch University Genomics of Brain Disorders Research Unit, Stellenbosch University, Cape Town, South Africa.

No abstract available

Keywords: genome-wide association study (GWAS); neurodegenerative disease; polygenic risk score (PRS); susceptibility variants; underrepresented populations.

Grants and funding

The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. SB was supported in part by the National Research Foundation of South Africa (reference number: 129429) and by the South African Medical Research Council (SAMRC; Self-Initiated Research Grant). KS was supported by the Michael J. Fox Foundation (MJFF) and Aligning Sciences Across Parkinson's Disease Global Parkinson Genetic Program (ASAP-GP2). IM was supported by grants from NIH (R01NS112499-01A1), the Michael J. Fox Foundation (MJFF), and Aligning Sciences Across Parkinson's Disease Global Parkinson Genetic Program (ASAP-GP2). This work was partly supported by the South African Medical Research Council/Stellenbosch University Genomics of Brain Disorders Research Unit, Stellenbosch University, Cape Town, South Africa. The content is solely the responsibility of the authors and does not necessarily represent the official views of the SAMRC or the NRF.