| Literature DB >> 22890097 |
Anna Kämäläinen1, Jayashree Viswanathan, Teemu Natunen, Seppo Helisalmi, Tarja Kauppinen, Maria Pikkarainen, Juha-Pekka Pursiheimo, Irina Alafuzoff, Miia Kivipelto, Annakaisa Haapasalo, Hilkka Soininen, Sanna-Kaisa Herukka, Mikko Hiltunen.
Abstract
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.Entities:
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Year: 2013 PMID： 22890097 DOI： 10.3233/JAD-2012-120946
Source DB: PubMed Journal: J Alzheimers Dis ISSN： 1387-2877 Impact factor: 4.472