In a first-of-its-kind study, researchers have discovered several pathogenic variants for Parkinson's disease that are unique to the Indian population. The findings highlight the urgent need for large-scale genomic studies across diverse population sets in India to improve understanding and clinical management of the disorder.
Study Details and Key Findings
To address the gap in genomic diversity, researchers performed whole-genome sequencing of 197 Indian Parkinson's disease cases, including 106 with early-onset and 91 with late-onset of the disorder. They identified pathogenic variants in 31 cases across seven PD-associated genes. Seven of these variants were novel to Indian populations.
The study was conducted by researchers from the Centre for Brain Research Indian Institute of Science and the National Institute of Mental Health and Neurosciences, both located in Bengaluru. It was published in Nature's NJP Parkinson's Disease on July 6.
Global Context and Implications
Over 80 per cent of Parkinson's disease genome-wide association studies participants are of European descent, and few large-scale studies have been conducted in Indian cohorts. Many variants identified in European cohorts are rare or absent in Indian populations, the researchers observed.
“Our study establishes one of the first comprehensive sequencing-based resources for PD genetics in India and underscores the need for large-scale genomic studies across diverse populations,” the researchers said.
“The identification of rare variants in our cohort underscores the need for comprehensive genetic analysis and careful phenotyping to improve our understanding of genotype-phenotype relationships and enhance early diagnosis, risk assessment and tailored management strategies for PD patients in diverse populations,” they added.
Burden of Parkinson's Disease
The global burden of Parkinson's disease has increased substantially in recent decades, with more than six million people affected in 2015 and projections suggesting over 12 million cases by 2040, the study pointed out.
“This steep rise, driven by aging populations and improved diagnostics, has led some to describe PD as a 'pandemic'. The mounting public health burden highlights an urgent need to understand its etiology across ancestrally and geographically diverse populations,” the researchers said.
