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GRN Variant rs5848 Reduces Plasma and Brain Levels of Granulin in Alzheimer's Disease Patients.
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2013 (English)In: Journal of Alzheimer's disease : JAD, ISSN 1875-8908, Vol. 33, no 1, 23-7 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2013. Vol. 33, no 1, 23-7 p.
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Clinical Laboratory Medicine Basic Medicine
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URN: urn:nbn:se:uu:diva-189892DOI: 10.3233/JAD-2012-120946ISI: 000312154400004PubMedID: 22890097OAI: oai:DiVA.org:uu-189892DiVA: diva2:582544
Available from: 2013-01-04 Created: 2013-01-04 Last updated: 2015-02-27

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Alafuzoff, Irina
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Molecular and Morphological Pathology
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