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

Schumacher-Schuh AF 1 , Bieger A 2 , Okunoye O 3 , Mok KY 4 , Lim SY 5 , Bardien S 6 Show all authors , Ahmad-Annuar A 7 , Santos-Lobato BL 8 , Strelow MZ 9 , Salama M 10 , Rao SC 11 , Zewde YZ 12 , Dindayal S 13 , Azar J 10 , Prashanth LK 14 , Rajan R 15 , Noyce AJ 16 , Okubadejo N 17 , Rizig M 18 , Lesage S 19 , Mata IF 11 , Global Parkinson's Genetics Program (GP2)

Affiliations 

  • 1 Departamento de Farmacologia, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
  • 2 Graduate Program in Biological Sciences: Biochemistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
  • 3 Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, United Kingdom
  • 4 Department of Neurodegenerative Disease and UK Dementia Research Institute, University College of London, London, United Kingdom
  • 5 Division of Neurology, Department of Medicine, and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 6 Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa
  • 7 Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 8 Laboratório de Neuropatologia Experimental, Universidade Federal do Pará, Belém, Brazil
  • 9 Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
  • 10 Institute of Global Health and Human Ecology, The American University in Cairo, Cairo, Egypt
  • 11 Genomic Medicine Institute, Lerner Research Institute, Genomic Medicine, Cleveland Clinic Foundation, Cleveland, Ohio, USA
  • 12 Department of Neurology, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia
  • 13 Division of Neurology, Department of Neurosciences, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
  • 14 Center for Parkinson's Disease and Movement Disorders, Manipal Hospital, Bangalore, India
  • 15 Department of Neurology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
  • 16 Preventive Neurology Unit, Centre for Prevention, Detection and Diagnosis, Wolfson Institute of Population Health, Queen Mary University of London, London, United Kingdom
  • 17 Department of Medicine, College of Medicine, University of Lagos, Lagos State, Nigeria
  • 18 Institute of Neurology, University College of London, London, United Kingdom
  • 19 Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, CIC Neurosciences, Paris, France
Mov Disord, 2022 Aug;37(8):1593-1604.
PMID: 35867623 DOI: 10.1002/mds.29126

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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