High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms

High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms

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 p...

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Hauptverfasser: 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
Format: Artikel
Sprache:eng
Schlagworte:
Biology
Cardiovascular
Genetics
Genome-Wide Association Studies
Human Genetics
Medicine
Stroke
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Zusammenfassung: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 with sIA in the Finnish population. We tested 9.4 million variants for association in 760 Finnish sIA patients (enriched for familial sIA), and in 2,513 matched controls with case-control status and with the number of sIAs. The most promising loci (p
ISSN:1553-7390
DOI:10.1371/journal.pgen.1004134