GRN Variant rs5848 Reduces Plasma and Brain Levels of Granulin in Alzheimer's Disease Patients

被引：37

作者：

Kamalainen, Anna ^{[1
]}

Viswanathan, Jayashree ^{[1
]}

Natunen, Teemu ^{[1
]}

Helisalmi, Seppo ^{[1
]}

Kauppinen, Tarja ^{[1
]}

Pikkarainen, Maria ^{[1
]}

Pursiheimo, Juha-Pekka ^{[2
]}

Alafuzoff, Irina ^{[3
,4
]}

Kivipelto, Miia ^{[1
,5
,6
]}

Haapasalo, Annakaisa ^{[1
]}

Soininen, Hilkka ^{[1
,7
]}

Herukka, Sanna-Kaisa ^{[1
,7
]}

Hiltunen, Mikko ^{[1
]}

机构：

[1] Univ Eastern Finland, Inst Clin Med Neurol, FI-70211 Kuopio, Finland

[2] Univ Turku, Turku Ctr Biotechnol, Turku, Finland

[3] Uppsala Univ, Dept Immunol Genet & Pathol, Uppsala, Sweden

[4] Univ Uppsala Hosp, Uppsala, Sweden

[5] Karolinska Inst, Dept Neurobiol Care Sci & Soc, Aging Res Ctr, Stockholm, Sweden

[6] Karolinska Inst, Dept Neurobiol Care Sci & Soc, Alzheimers Dis Res Ctr, Stockholm, Sweden

[7] Kuopio Univ Hosp, Dept Neurol, SF-70210 Kuopio, Finland

来源：

JOURNAL OF ALZHEIMERS DISEASE | 2013年 / 33卷 / 01期

基金：

芬兰科学院;

关键词：

Alzheimer's disease; granulin; GRN; microRNA; plasma; rs5848; temporal cortex; FRONTOTEMPORAL DEMENTIA; RISK; GENE;

D O I：

10.3233/JAD-2012-120946

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：23 / 27

页数：5

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