Understanding the role of genetic variability in LRRK2 in Indian population.

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 t

SUBMITTER: Kishore A 

PROVIDER: S-EPMC8985845 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature