Underrepresented populations in Parkinson's genetics research: Current landscape and future directions

Schumacher-Schuh, Artur Francisco and Bieger, Andrei and Okunoye, Olaitan and Mok, Kin Ying and Lim, Shen-Yang and Bardien, Soraya and Ahmad-Annuar, Azlina and Santos-Lobato, Bruno Lopes and Strelow, Matheus Zschornack and Salama, Mohamed and Rao, Shilpa C. and Zewde, Yared Zenebe and Dindayal, Saiesha and Azar, Jihan and Prashanth, Lingappa Kukkle and Rajan, Roopa and Noyce, Alastair J. and Okubadejo, Njideka and Rizig, Mie and Lesage, Suzanne and Mata, Ignacio Fernandez and Progra, Global Parkinson's Genetics (2022) Underrepresented populations in Parkinson's genetics research: Current landscape and future directions. Movement Disorders, 37 (8). pp. 1593-1604. ISSN 0885-3185, DOI https://doi.org/10.1002/mds.29126.

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Background Human genetics research lacks diversity; over 80% of genome-wide association studies have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can create disparities preventing equitable implementation of personalized medicine. Objective This systematic review provides an overview of research involving Parkinson's disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations. Methods We searched PubMed and EMBASE until October 2021 using search strings for ``PD,'' ``genetics,'' the main ``URP,'' and and the countries in Latin America, Caribbean, Africa, Asia, and Oceania (excluding Australia and New Zealand). Inclusion criteria were original studies, written in English, reporting genetic results on PD from non-European populations. Two levels of independent reviewers identified and extracted information. Results We observed imbalances in PD genetic studies among URPs. Asian participants from Greater China were described in the majority of the articles published (57%), but other populations were less well studied; for example, Blacks were represented in just 4.0% of the publications. Also, although idiopathic PD was more studied than monogenic forms of the disease, most studies analyzed a limited number of genetic variants. We identified just nine studies using a genome-wide approach published up to 2021, including URPs. Conclusion This review provides insight into the significant lack of population diversity in PD research highlighting the immediate need for better representation. The Global Parkinson's Genetics Program (GP2) and similar initiatives aim to impact research in URPs, and the early metrics presented here can be used to measure progress in the field of PD genetics in the future. (c) 2022 International Parkinson and Movement Disorder Society.

Item Type: Article
Funders: Aligning Science Across Parkinson's through The Michael J. Fox Foundation for Parkinson's Research
Uncontrolled Keywords: Parkinson's disease; Systematic review; Diversity; Underrepresented populations; Genetics
Subjects: R Medicine > RC Internal medicine
Divisions: Faculty of Medicine > Biomedical Science Department
Faculty of Medicine > Medicine Department
Depositing User: Ms. Juhaida Abd Rahim
Date Deposited: 24 Nov 2023 01:16
Last Modified: 24 Nov 2023 01:16
URI: http://eprints.um.edu.my/id/eprint/41414

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