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PLoS Genet DOI:10.1371/journal.pgen.1004134

High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.

Publication TypeJournal Article
Year of Publication2014
AuthorsKurki, MI, Gaál, EIlona, Kettunen, J, Lappalainen, T, Menelaou, A, Anttila, V, Hof, FNG van 't, Fraunberg, Mvon Und Zu, Helisalmi, S, Hiltunen, M, Lehto, H, Laakso, A, Kivisaari, R, Koivisto, T, Ronkainen, A, Rinne, J, Kiemeney, LAL, Vermeulen, SH, Kaunisto, MA, Eriksson, JG, Aromaa, A, Perola, M, Lehtimäki, T, Raitakari, OT, Salomaa, V, Gunel, M, Dermitzakis, ET, Ruigrok, YM, Rinkel, GJE, Niemelä, M, Hernesniemi, J, Ripatti, S, de Bakker, PIW, Palotie, A, Jääskeläinen, JE
JournalPLoS Genet
Volume10
Issue1
Pagese1004134
Date Published2014 Jan
ISSN1553-7404
KeywordsChromosomes, Human, Pair 2, Europe, Finland, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genetics, Population, Genome-Wide Association Study, Humans, Intracranial Aneurysm, Risk Factors, Stroke, Subarachnoid Hemorrhage
Abstract

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

URLhttp://dx.plos.org/10.1371/journal.pgen.1004134
DOI10.1371/journal.pgen.1004134
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/24497844?dopt=Abstract

Alternate JournalPLoS Genet.
PubMed ID24497844
PubMed Central IDPMC3907358
Grant List / / Howard Hughes Medical Institute / United States
/ / Wellcome Trust / United Kingdom