We found a polygenic score to be associated with WMH volume in CADASIL subjects. Our findings suggest that multiple variants with small effects influence WMH burden in CADASIL. The identification of these variants and the biological pathways involved will provide insights into the pathophysiology of white matter disease in CADASIL and possibly small vessel disease in general.

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL / Opherk, Christian; Gonik, Mariya; Duering, Marco; Malik, Rainer; Jouvent, Eric; Hervé, Dominique; Adib-Samii, Poneh; Bevan, Steve; Pianese, Luigi; Silvestri, Serena; Dotti, Maria Teresa; De Stefano, Nicola; Liem, Michael; Boon, Elles M.J.; Pescini, Francesca; Pachai, Chahin; Bracoud, Luc; Müller-Myhsok, Bertram; Meitinger, Thomas; Rost, Natalia; Pantoni, Leonardo; Lesnik Oberstein, Saskia; Federico, Antonio; Ragno, Michele; Markus, Hugh S.; Tournier-Lasserve, Elisabeth; Rosand, Jonathan; Chabriat, Hugues; Dichgans, Martin. - In: STROKE. - ISSN 0039-2499. - ELETTRONICO. - 45:(2014), pp. 968-972. [10.1161/STROKEAHA.113.004461]

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL

PESCINI, FRANCESCA;PANTONI, LEONARDO;
2014

Abstract

We found a polygenic score to be associated with WMH volume in CADASIL subjects. Our findings suggest that multiple variants with small effects influence WMH burden in CADASIL. The identification of these variants and the biological pathways involved will provide insights into the pathophysiology of white matter disease in CADASIL and possibly small vessel disease in general.
2014
45
968
972
Opherk, Christian; Gonik, Mariya; Duering, Marco; Malik, Rainer; Jouvent, Eric; Hervé, Dominique; Adib-Samii, Poneh; Bevan, Steve; Pianese, Luigi; Sil...espandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1019692
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