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a genomic pathway approach to a complex disease axon guidance and parkinson disease轴突基因组途径方法一种复杂的疾病指导和帕金森病.pdf

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a genomic pathway approach to a complex disease axon guidance and parkinson disease轴突基因组途径方法一种复杂的疾病指导和帕金森病

A Genomic Pathway Approach to a Complex Disease: Axon Guidance and Parkinson Disease 1 2 2 3 4 Timothy G. Lesnick , Spiridon Papapetropoulos , Deborah C. Mash , Jarlath Ffrench-Mullen , Lina Shehadeh , Mariza de Andrade1 5 6,7 7 7* , John R. Henley , Walter A. Rocca , J. Eric Ahlskog , Demetrius M. Maraganore 1 Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, Minnesota, United States of America, 2 Department of Neurology, Miller School of Medicine, University of Miami, Miami, Florida, United States of America, 3 Gene Logic, Gaithersburg, Maryland, United States of America, 4 Molecular and Cellular Pharmacology, Miller School of Medicine, University of Miami, Miami, Florida, United States of America, 5 Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine, Rochester, Minnesota, United States of America, 6 Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, Minnesota, United States of America, 7 Department of Neurology, Mayo Clinic College of Medicine, Rochester, Minnesota, United States of America 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 para