Article
High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.
PLoS genetics - 1 Jan 2014
Kurki Mitja I, Gaál Emília Ilona, Kettunen Johannes, Lappalainen Tuuli, Menelaou Androniki, Anttila Verneri, van 't Hof Femke N G, von Und Zu Fraunberg Mikael, Helisalmi Seppo, Hiltunen Mikko, Lehto Hanna, Laakso Aki, Kivisaari Riku, Koivisto Timo, Ronkainen Antti, Rinne Jaakko, Kiemeney Lambertus A L, Vermeulen Sita H, Kaunisto Mari A, Eriksson Johan G, Aromaa Arpo, Perola Markus, Lehtimäki Terho, Raitakari Olli T, Salomaa Veikko, Gunel Murat, Dermitzakis Emmanouil T, Ruigrok Ynte M, Rinkel Gabriel J E, Niemelä Mika, Hernesniemi Juha, Ripatti Samuli, de Bakker Paul I W, Palotie Aarno, Jääskeläinen Juha E
Abstract excerpt
3% of the population develops saccular intracranial aneurysms (sIAs), a complex trait, with a sporadic and a familial form. Subarachnoid hemorrhage from sIA (sIA-SAH) is a devastating form of stroke. Certain rare genetic variants are enriched in the Finns, a population isolate with a small founder population and bottleneck events. As the sIA-SAH incidence in Finland is >2× increased, such variants may associate...
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