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Genetic architecture of parkinson’s disease in the indian population: Harnessing genetic diversity to address critical gaps in parkinson’s disease research.
Front. Neurol. 11:524 (2020)
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Forschungsdaten
DOI
PMC
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.
Impact Factor
Scopus SNIP
Web of Science
Times Cited
Times Cited
Scopus
Cited By
Cited By
Altmetric
2.889
1.004
4
12
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern
Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Parkinson's Disease ; Genetic Diversity ; Genome-wide Association Study ; Common Genetic Variation ; Biobank; Genome-wide Association; Risk; Metaanalysis; Mutations; Variants; Tool
Sprache
englisch
Veröffentlichungsjahr
2020
HGF-Berichtsjahr
2020
ISSN (print) / ISBN
1664-2295
e-ISSN
1664-2295
Zeitschrift
Frontiers in neurology
Quellenangaben
Band: 11,
Artikelnummer: 524
Verlag
Frontiers
Verlagsort
Lausanne
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)
POF Topic(s)
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er)
Genetics and Epidemiology
PSP-Element(e)
G-500700-001
WOS ID
WOS:000548627000001
Scopus ID
85087713326
PubMed ID
32655481
Erfassungsdatum
2020-09-29