APOE 2 is associated with white matter hyperintensity volume in CADASIL

被引：29

作者：

Gesierich, Benno ^{[1
]}

Opherk, Christian ^{[1
,2
]}

Rosand, Jonathan ^{[3
,4
,5
]}

Gonik, Mariya ^{[1
]}

Malik, Rainer ^{[1
]}

Jouvent, Eric ^{[6
]}

Herve, Dominique ^{[7
]}

Adib-Samii, Poneh ^{[8
]}

Bevan, Steve ^{[8
]}

Pianese, Luigi ^{[9
,10
]}

Silvestri, Serena ^{[9
,10
]}

Dotti, Maria T. ^{[11
]}

De Stefano, Nicola ^{[11
]}

van der Grond, Jeroen ^{[12
]}

Boon, Elles M. J. ^{[13
]}

Pescini, Francesca ^{[14
,15
]}

Rost, Natalia ^{[3
,4
]}

Pantoni, Leonardo ^{[14
,15
]}

Oberstein, Saskia A. Lesnik ^{[13
]}

Federico, Antonio ^{[11
]}

Ragno, Michele ^{[9
,10
]}

Markus, Hugh S. ^{[16
]}

Tournier-Lasserve, Elisabeth ^{[7
]}

Chabriat, Hugues ^{[6
]}

Dichgans, Martin ^{[1
,17
]}

Duering, Marco ^{[1
]}

Ewers, Michael ^{[1
]}

机构：

[1] Univ Munich, Inst Stroke & Dementia Res, Klinikum Univ Munchen, Munich, Germany

[2] SLK Kliniken Heilbronn, Dept Neurol, Heilbronn, Germany

[3] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA

[4] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA

[5] Broad Inst, Program Med & Populat Genet, Cambridge, MA USA

[6] Hop Lariboisiere, AP HP, DHU NeuroVasc, Dept Neurol, F-75475 Paris, France

[7] Univ Paris Diderot, Sorbonne Paris Cite, Genet Malad Vasc INSERM, UMR S740, Paris, France

[8] Univ London, Stroke & Dementia Res Ctr, London, England

[9] Mazzoni Hosp, Div Neurol, Ascoli Piceno, Italy

[10] Mazzoni Hosp, Mol Med Sect, Ascoli Piceno, Italy

[11] Univ Siena, Dept Med Surg & Neurosci, I-53100 Siena, Italy

[12] Leiden Univ, Dept Radiol, Med Ctr, Leiden, Netherlands

[13] Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands

[14] Azienda Osped Univ Careggi, Stroke Unit, Florence, Italy

[15] Azienda Osped Univ Careggi, Neurol, Florence, Italy

[16] Univ Cambridge, Clin Neurosci, Cambridge, England

[17] Munich Cluster Syst Neurol SyNergy, Munich, Germany

来源：

JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM | 2016年 / 36卷 / 01期

基金：

美国国家卫生研究院;

关键词：

APOE; CADASIL; multicenter study; small vessel disease; white matter hyperintensities; APOLIPOPROTEIN-E; DISEASE; PROTEIN;

D O I：

10.1038/jcbfm.2015.85

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Apolipoprotein E (APOE) increases the risk for Alzheimer's disease (4 allele) and cerebral amyloid angiopathy (2 and 4), but its role in small vessel disease (SVD) is debated. Here we studied the effects of APOE on white matter hyperintensity volume (WMHV) in CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a nonamyloidogenic angiopathy and inherited early-onset form of pure SVD. Four hundred and eighty-eight subjects were recruited through a multicenter consortium. Compared with APOE 3/3, WMHV was increased in APOE 2 (P=0.02) but not APOE 4. The results remained significant when controlled for genome-wide genetic background variation. Our findings suggest a modifying influence of APOE 2 on WMHV caused by pure SVD.

引用

页码：199 / 203

页数：5

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