Category: Parkinson's Disease: Genetics
Objective: To conduct the first pan-Indian genomic survey of PD across18 centres in India which included 4806 cases and 6363 controls.
Background: The genetic architecture of Parkinsons disease (PD) in Indian population is underrepresented in global research
Method: We used a generalised linear model adjusted for age, sex, the top 10 principal components and variants with minor allele frequency (MAF) >1% to identify genome-wide significant loci in the Indian population. We conducted a meta-analysis integrating summary statistics from a multi-ancestry PD meta-analysis (N=611,485).1 We also evaluated the expression of the key loci using RNA-sequencing data from lymphoblastoid cell lines of individuals from the 1000 Genomes data.
Results: Thirteen genome-wide significant loci were identified, including two novel loci. Three, additional loci were uncovered through meta-analysis. These new loci were associated with genes involved in immune function, lipid metabolism and SNCA aggregation highlighting their role in PD pathogenesis. Gene expression showed variability emphasizing population-specific differences. Heritability estimates for PD was ~30% indicating a higher genetic burden of PD in the Indian population compared to Europeans.
Conclusion: We identified 13 genome wide significant loci including 5 novel loci associated with Parkinsons disease in India and high genetic burden of PD in India. We also established South Asia’s largest PD biobank thus providing a foundation for patient-centric approaches to PD research and treatment in India.
References: 1. Rajan R et al. Genetic Architecture of Parkinson’s disease in Indian population. Harnessing Genetic diversity to address critical gaps in Parkinson’s disease research. Front Neurol 2020;12: 524
2. Kim JJ et al. Multi-ancestory genome-wide association meta-analysis of Parkinsons disease. Nat Gene 2024; 56:27-36
To cite this abstract in AMA style:
A. Kishore, A. Sreelatha, A. Tenghe, R. Borgohain, D. Puthenveedu, R. Rajan, L. Ricardo, P. Pal, R. Mridula, M. Urulangod, R. Yadav, S. Mehta, H. Kumar, P. Agarwal, N. Kumar, P. Kukkle, S. Desai, M. Sharma. A Pan-Indian Genome-Wide Association Study of Parkinson’s Disease [abstract]. Mov Disord. 2025; 40 (suppl 1). https://www.mdsabstracts.org/abstract/a-pan-indian-genome-wide-association-study-of-parkinsons-disease/. Accessed October 5, 2025.« Back to 2025 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/a-pan-indian-genome-wide-association-study-of-parkinsons-disease/