Asha , Kishore and Moinak , Banerjee (2018) Understanding the Role of Genetic Variability in LRRK2 in Indian Population. Movement disorders . ISSN 1531-8257

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Abstract

Background: Genetic variability in LRRK2 has been unequivocally established as a major risk factor for familial and sporadic forms of PD in ethnically diverse populations. Objectives: To resolve the role of LRRK2 in the Indian population. Methods: We performed targeted resequencing of the LRRK2 locus in 288 cases and 298 controls and resolved the haplotypic structure of LRRK2 in a combined cohort of 800 cases and 402 controls in the Indian population. We assessed the frequency of novel missense variants in the white and East Asian population by leveraging exome sequencing and densely genotype data, respectively. We did computational modeling and biochemical approach to infer the potential role of novel variants impacting the LRRK2 protein function. Finally, we assessed the phosphorylation activity of identified novel coding variants in the LRRK2 gene. Results: We identified four novel missense variants with frequency ranging from 0.0008% to 0.002% specific for the Indian population, encompassing armadillo and kinase domains of the LRRK2 protein. A common genetic variability within LRRK2 may contribute to increased risk, but it was nonsignificant after correcting for multiple

Item Type:	Article
Uncontrolled Keywords:	neurodegeneration; Parkinson’s disease; LRRK2
Subjects:	Human Molecular Genetics
Depositing User:	Central Library RGCB
Date Deposited:	11 Apr 2019 06:54
Last Modified:	11 Apr 2019 06:54
URI:	http://rgcb.sciencecentral.in/id/eprint/725

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