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Biochem Biophys Res Commun. 2014 Sep 19;452(2):221-5. doi: 10.1016/j.bbrc.2014.07.098. Epub 2014 Jul 28.

Genomic aspects of sporadic neurodegenerative diseases.

Author information

  • 1Department of Neurology, The University of Tokyo, Graduate School of Medicine, Japan.
  • 2Department of Neurology, The University of Tokyo, Graduate School of Medicine, Japan. Electronic address: tsuji@m.u-tokyo.ac.jp.

Abstract

Sporadic neurodegenerative diseases are complex in nature, that is, they involve multiple genetic and environmental factors that may play roles at the molecular level. In contrast to diseases with Mendelian inheritance, the genomic signatures of common sporadic forms of neurodegenerative diseases largely remain unknown. Over the past decade, genome-wide association studies employing common single-nucleotide polymorphisms have been intensively conducted, in which the theoretical framework is based on the "common disease-common variants" hypothesis. Another paradigm is a sequence-based association study under the "common disease-multiple rare variants" hypothesis. Because current next-generation sequencing technologies enable us to obtain virtually all the variants in human genome irrespective of allele frequencies, it is anticipated that sequence-based association studies will become the mainstream approach. In this review, we present brief overviews of molecular genetic approaches to elucidate the molecular bases of sporadic forms of neurodegenerative diseases, including Alzheimer disease, Parkinson disease, and multiple system atrophy as examples.

Copyright © 2014 Elsevier Inc. All rights reserved.

KEYWORDS:

Common disease-multiple rare variants hypothesis; Genome-wide association studies; Next-generation sequencing technologies; Sporadic neurodegenerative disease

PMID:
25078619
[PubMed - indexed for MEDLINE]
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