A genomic pathway approach to a complex disease: axon guidance and Parkinson disease.

ABSTRACT: While major inroads have been made in identifying the genetic causes of rare Mendelian disorders, little progress has been made in the discovery of common gene variations that predispose to complex diseases. The single gene variants that have been shown to associate reproducibly with complex diseases typically have small effect sizes or attributable risks. However, the joint actions of common gene variants within pathways may play a major role in predisposing to complex diseases (the paradigm of complex genetics). The goal of this study was to determine whether polymorphism in a candidate pathway (axon guidance) predisposed to a complex disease (Parkinson disease [PD]). We mined a whole-genome association dataset and identified single nucleotide polymorphisms (SNPs) that were within axon-g

SUBMITTER: Lesnick TG 

PROVIDER: S-EPMC1904362 | biostudies-literature | 2007 Jun

REPOSITORIES: biostudies-literature