High-resolution arrays reveal burden of copy number variations on Parkinson disease genes associated with increased disease risk in random cohorts

Megha Murthy, N. and Avinash, M. V. and Seshachalam, K. B. and Ramachandra, N. B. (2016) High-resolution arrays reveal burden of copy number variations on Parkinson disease genes associated with increased disease risk in random cohorts. Neurological Research, 38 (9). pp. 775-785.

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Official URL: https://doi.org/10.1080/01616412.2016.1204105

Abstract

Parkinson disease (PD) is a neurological disease responsible for a considerable rate of mortality and morbidity in the society. Since the symptoms of the disease appear much later than the actual onset of neuron degeneration, a majority of cases remain undiagnosed until the manifestation of the symptoms. Objectives: In order to investigate the existence of such susceptibility in the population, we analyzed Copy Number Variation (CNV) influences on PD genes in 1715 individuals from 12 different populations. Results: Overall, 16 CNV-PD genes, 3 known to be causal and 13 associated, were found to be significantly enriched. PARK2, was under heavy burden with ~1% of the population containing CNV in the exonic region. The impact of these genes on the genome and disease pathway was analyzed using several genome analysis tools. Protein interaction network of CNV-PD genes revealed a complex interaction of molecules forming a major hub by the α-Synuclein, whose direct interactors, LRRK2, PARK2 and ATP13A2 are under CNV influence.

Item Type: Article
Subjects: B Life Science > Genetics and Genomics
Divisions: Department of > Genetics and Genomics
Depositing User: manjula User
Date Deposited: 14 Jun 2019 11:38
Last Modified: 14 Jun 2019 11:38
URI: http://eprints.uni-mysore.ac.in/id/eprint/3107

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