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

PLoS Genet
Authors
Keywords
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

Year of Publication
2014
Journal
PLoS Genet
Volume
10
Issue
1
Pages
e1004134
Date Published
2014 Jan
ISSN
1553-7404
URL
DOI
10.1371/journal.pgen.1004134
PubMed ID
24497844
PubMed Central ID
PMC3907358
Links
Grant list
Howard Hughes Medical Institute / United States
Wellcome Trust / United Kingdom