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

“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 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.”

Underrepresented Populations Working Group

The Underrepresented Populations working group, facilitates increased representation and analysis of genetic factors associated with Parkinson’s disease in non-European populations.
Learn more about Underrepresented Populations Working Group

Meet the authors

Assistant Professor / Head of Neurology Unit

Artur Schuh, MD,PhD

Universidade Federal do Rio Grande do Sul / Hospital de Clínicas de Porto Alegre | Porto Alegre, Brazil

Junior lead - Under represented population working group

Olaitan Okunoye

University College London | Nigeria

Principal Research Fellow, and Lead in East Asian Genetic Study

Kin Ying Mok, PhD

Univeristy College London | UK

Senior Consultant Neurologist & Professor

Shen-Yang Lim

University of Malaya | Malaysia

Professor and Researcher

Soraya Bardien, PhD

Stellenbosch University | Cape Town, South Africa

Associate Professor

Azlina Ahmad-Annuar

University of Malaya | Malaysia

Unknown, MD, Neurologist, and Professor

Bruno Lopes

Unknown, Federal University of Pará, Brazil | Brazil

Unknown

Matheus Zschornack Strelow

unknown | Brazil

Associate director, head of neuromics lab and director of the Egyptian Network for Neurodegenerative Diseases

Mohamed Salama

The American University in Cairo | Egypt