GRN variant rs5848 reduces plasma and brain levels of granulin in Alzheimer's disease patients.

doi:10.3233/JAD-2012-120946

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Article

GRN variant rs5848 reduces plasma and brain levels of granulin in Alzheimer's disease patients.

Journal of Alzheimer's disease : JAD - 1 Jan 2013

Kämäläinen Anna, Viswanathan Jayashree, Natunen Teemu, Helisalmi Seppo, Kauppinen Tarja, Pikkarainen Maria, Pursiheimo Juha-Pekka, Alafuzoff Irina, Kivipelto Miia, Haapasalo Annakaisa, Soininen Hilkka, Herukka Sanna-Kaisa, Hiltunen Mikko

Abstract excerpt

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 granul...

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PMID: 22890097
DOI: 10.3233/JAD-2012-120946

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22890097-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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