Apolipoprotein E (APOE) increases the risk for Alzheimer’s disease (ɛ4 allele) and cerebral amyloid angiopathy (ɛ2 and ɛ4), 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 ɛ3/ɛ3, WMHV was increased in APOE ɛ2 (P = 0.02) but not APOE ɛ4. The results remained significant when controlled for genome-wide genetic background variation. Our findings suggest a modifying influence of APOE ɛ2 on WMHV caused by pure SVD.
APOE ε 2 is associated with white matter hyperintensity volume in CADASIL / B. Gesierich, C. Opherk, J. Rosand, M. Gonik, R. Malik, E. Jouvent, D. Hervé, P. Adib-Samii, S. Bevan, L. Pianese, S. Silvestri, M.T. Dotti, N. De Stefano, J. Van Der Grond, E.M.J. Boon, F. Pescini, N. Rost, L. Pantoni, S.A. Lesnik Oberstein, A. Federico, M. Ragno, H.S. Markus, E. Tournier-Lasserve, H. Chabriat, M. Dichgans, M. Duering, M. Ewers. - In: JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM. - ISSN 0271-678X. - 36:1(2016), pp. 199-203.
|Titolo:||APOE ε 2 is associated with white matter hyperintensity volume in CADASIL|
PANTONI, LEONARDO (Corresponding)
|Parole Chiave:||APOE; CADASIL; multicenter study; small vessel disease; white matter hyperintensities; Adult; Apolipoprotein E2; CADASIL; Female; Gene Frequency; Genome-Wide Association Study; Genotype; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Protein Isoforms; Regression Analysis; Risk Factors; White Matter; Alleles; Polymorphism, Single Nucleotide; Neurology; Neurology (clinical); Cardiology and Cardiovascular Medicine|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
|Data di pubblicazione:||2016|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1038/jcbfm.2015.85|
|Appare nelle tipologie:||01 - Articolo su periodico|