Abstract
Over the past two decades, our understanding of Parkinson's disease (PD) has been gleaned from the discoveries made in familial and/or sporadic forms of PD in the Caucasian population. The transferability and the clinical utility of genetic discoveries to other ethnically diverse populations are unknown. The Indian population has been under-represented in PD research. The Genetic Architecture of PD in India (GAP-India) project aims to develop one of the largest clinical/genomic bio-bank for PD in India. Specifically, GAP-India project aims to: (1) develop a pan-Indian deeply phenotyped clinical repository of Indian PD patients; (2) perform whole-genome sequencing in 500 PD samples to catalog Indian genetic variability and to develop an Indian PD map for the scientific community; (3) perform a genome-wide association study to identify novel loci for PD and (4) develop a user-friendly web-portal to disseminate results for the scientific community. Our “hub-spoke” model follows an integrative approach to develop a pan-Indian outreach to develop a comprehensive cohort for PD research in India. The alignment of standard operating procedures for recruiting patients and collecting biospecimens with international standards ensures harmonization of data/bio-specimen collection at the beginning and also ensures stringent quality control parameters for sample processing. Data sharing and protection policies follow the guidelines established by local and national authorities.We are currently in the recruitment phase targeting recruitment of 10,200 PD patients and 10,200 healthy volunteers by the end of 2020. GAP-India project after its completion will fill a critical gap that exists in PD research and will contribute a comprehensive genetic catalog of the Indian PD population to identify novel targets for PD.
Highlights
Parkinson’s disease (PD) is the second most common neurodegenerative disorder in adults over the age of 60 years [1]
Functional validation of putative pathogenic variants including patient-specific induced pluripotent stem cell modeling will be done at the National Brain Research Center, Gurgaon, India
We identified five populations representing the Indian subcontinent in phase 3 1,000 Genomes Project (KGP): two from the northwestern region [Gujarati Indian in Houston, TX (GIH) and Punjabi in Lahore, Pakistan (PJL)], two from Southern region [Indian Telugu in the UK (ITU) and Sri Lankan Tamil in the UK (STU)] and one from Eastern region [Bengali in Bangladesh (BEB)]
Summary
Parkinson’s disease (PD) is the second most common neurodegenerative disorder in adults over the age of 60 years [1]. Despite the large number of people affected with PD, insights into the underlying genetic and environmental risk factors specific to the Indian population are limited. This is in contrast to the Caucasian population in whom easy access to the patient cohort and the population homogeneity have driven initial large scale genome-wide studies [3, 4]. Populations vary in terms of allele frequency, linkage disequilibrium (LD) patterns, and differences in effect estimates This provides a scientific rationale that no single population is sufficient to fully uncover the variants underlying disease in all populations, and makes it imperative to pursue genetic research in diverse populations to capture the genetic diversity of a disease. This paper describes the design of the GAP-India project including the study sites, subject recruitment, clinical assessments, biospecimens processing, plan for data analysis and sharing, capacity building, and the ethical and regulatory frameworks within which we operate
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