Genetic variants in the granulin (GRN) gene have been shown to increase the risk of Alzheimer's disease (AD). Here, we report that the A allele of rs5848 in GRN reduces plasma granulin levels in a dose-dependent manner in a clinically-defined AD sample cohort. Similarly, the mRNA levels of granulin were decreased with respect to A allele of rs5848 in the inferior temporal cortex of neuropathologically confirmed AD patients. Our findings suggest that the A allele of rs5848 is functionally relevant by reducing the expression of granulin. © 2013 - IOS Press and the authors. All rights reserved.
CITATION STYLE
Kämäläinen, A., Viswanathan, J., Natunen, T., Helisalmi, S., Kauppinen, T., Pikkarainen, M., … Hiltunen, M. (2013). GRN Variant rs5848 reduces plasma and brain levels of granulin in Alzheimer’s disease patients. Journal of Alzheimer’s Disease, 33(1), 23–27. https://doi.org/10.3233/JAD-2012-120946
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