Article
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.
American journal of human genetics - 10 Dec 2010
Carrasquillo Minerva M, Nicholson Alexandra M, Finch NiCole, Gibbs J Raphael, Baker Matt, Rutherford Nicola J, Hunter Talisha A, DeJesus-Hernandez Mariely, Bisceglio Gina D, Mackenzie Ian R, Singleton Andrew, Cookson Mark R, Crook Julia E, Dillman Allissa, Hernandez Dena, Petersen Ronald C, Graff-Radford Neill R, Younkin Steven G, Rademakers Rosa
Abstract excerpt
Recent studies suggest progranulin (GRN) is a neurotrophic factor. Loss-of-function mutations in the progranulin gene (GRN) cause frontotemporal lobar degeneration (FTLD), a progressive neurodegenerative disease affecting ∼10% of early-onset dementia patients. Using an enzyme-linked immunosorbent assay, we previously showed that GRN is detectable in human plasma and can be used to predict GRN mutation status....
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