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. 2022 Aug;37(8):1593-1604.
doi: 10.1002/mds.29126. Epub 2022 Jul 22.

Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions

Artur Francisco Schumacher-Schuh  1   2 , Andrei Bieger  3 , Olaitan Okunoye  4 , Kin Ying Mok  5   6 , Shen-Yang Lim  7 , Soraya Bardien  8 , Azlina Ahmad-Annuar  9 , Bruno Lopes Santos-Lobato  10 , Matheus Zschornack Strelow  11 , Mohamed Salama  12 , Shilpa C Rao  13 , Yared Zenebe Zewde  14 , Saiesha Dindayal  15 , Jihan Azar  12 , Lingappa Kukkle Prashanth  16 , Roopa Rajan  17 , Alastair J Noyce  18 , Njideka Okubadejo  19 , Mie Rizig  20 , Suzanne Lesage  21 , Ignacio Fernandez Mata  13 ; Global Parkinson's Genetics Program (GP2)
Collaborators, Affiliations

Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions

Artur Francisco Schumacher-Schuh et al. Mov Disord. 2022 Aug.

Abstract

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. © 2022 International Parkinson and Movement Disorder Society.

Keywords: Parkinson's disease; diversity; genetics; systematic review; underrepresented populations.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

FIG 1
FIG 1
Publication counts by region/ethnicity along the years. Panel A: all regions/ethnicities included. Panel B: excluding Greater China to see the pattern of other regions/ethnicities more clearly.
FIG 2
FIG 2
Publication counts by corresponding author's countries/regions.
FIG 3
FIG 3
Country collaboration maps by studied populations. Panel A: Collaboration map excluding the Global North. Panel B: Collaboration map for articles describing Latin America & Caribbean populations. Panel C: Collaboration map for articles describing Middle East & North Africa populations. Panel D: Collaboration map for articles describing Asia excluding Greater China populations. Panel E: Collaboration map for articles describing Greater China populations. Panel E: Collaboration map for articles describing Greater China populations.
FIG 4
FIG 4
Citations and journal's impact factor across selected countries. Panel A: number of citations by country. Panel B: Journal's impact factor by country.
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