Gene Linkage and Systems Biology

Chapter
First Online:
Part of the Advances in Neurobiology book series (NEUROBIOL, volume 15)

Abstract

In the past two decades it has become increasingly clear that the risk for many neurodegenerative disorders is at least partially genetic. Assignment of causality for a given gene depends on showing that a particular variant shows either segregation within a family or association with disease across a population. In terms of lifetime risk of disease, the former generally show strong effects compared to the latter. In rare, but interesting, circumstances there are genetic loci that contain different variants that encode either highly penetrant Mendelian disease but also that contribute to risk of sporadic disease. Here, we will discuss the current efforts to complete our understanding of the genetic architecture of neurodegenerative diseases of aging with a particular focus on Parkinson’s disease. We will also briefly outline attempts to use systematic approaches to infer relationships between genes associated with the same diseases, which likely demonstrate that in each case there are a relatively small number of underlying biological pathways or processes that may explain pathogenesis.

Keywords

Genome-wide association studies Parkinson’s disease Alzheimer’s disease Amyotrophic lateral sclerosis 

Abbreviations

AD

Alzheimer’s disease

ALS

Amyotrophic lateral sclerosis

ApoE

Apolipoprotein E

eQTL

Expression quantitative trait loci

GWAS

Genome-wide association study

HD

Huntington’s disease

LRRK2

Leucine-rich repeat kinase 2

PD

Parkinson’s disease

SNP

Single nucleotide polymorphism

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Notes

Acknowledgments

This research was supported entirely by the Intramural Research Program of the NIH, National Institute on Aging.

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Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  1. 1.Laboratory of Neurogenetics, NIABethesdaUSA

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