APOE 2 is associated with white matter hyperintensity volume in CADASIL

作者：Gesierich Benno; Opherk Christian; Rosand Jonathan; Gonik Mariya; Malik Rainer; Jouvent Eric; Herve Dominique; Adib Samii Poneh; Bevan Steve; Pianese Luigi; Silvestri Serena; Dotti Maria T; De Stefano Nicola; van der Grond Jeroen; Boon Elles M J; Pescini Francesca; Rost Natalia; Pantoni Leonardo; Oberstein Saskia A Lesnik; Federico Antonio; Ragno Michele; Markus Hugh S; Tournier Lasserve Elisabeth; Chabriat Hugues; Dichgans Martin; Duering Marco; Ewers Michael^*

来源：Journal of Cerebral Blood Flow and Metabolism, 2016, 36(1): 199-203.

DOI：10.1038/jcbfm.2015.85

• APOE
• CADASIL
• multicenter study
• small vessel disease
• white matter hyperintensities

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.

• 出版日期2016-1