| dc.contributor.author | CORVIN, AIDEN PETER | en |
| dc.date.accessioned | 2013-08-07T15:45:09Z | |
| dc.date.available | 2013-08-07T15:45:09Z | |
| dc.date.issued | 2012 | en |
| dc.date.submitted | 2012 | en |
| dc.identifier.citation | Bellenguez C, Bevan S, Gschwendtner A, Spencer CC, Burgess AI, Pirinen M, Jackson CA, Traylor M, Strange A, Su Z, Band G, Syme PD, Malik R, Pera J, Norrving B, Lemmens R, Freeman C, Schanz R, James T, Poole D, Murphy L, Segal H, Cortellini L, Cheng YC, Woo D, Nalls MA, Muller-Myhsok B, Meisinger C, Seedorf U, Ross-Adams H, Boonen S, Wloch-Kopec D, Valant V, Slark J, Furie K, Delavaran H, Langford C, Deloukas P, Edkins S, Hunt S, Gray E, Dronov S, Peltonen L, Gretarsdottir S, Thorleifsson G, Thorsteinsdottir U, Stefansson K, Boncoraglio GB, Parati EA, Attia J, Holliday E, Levi C, Franzosi MG, Goel A, Helgadottir A, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Jankowski J, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Worrall BB, Kittner SJ, Mitchell BD, Kissela B, Meschia JF, Thijs V, Lindgren A, Macleod MJ, Slowik A, Walters M, Rosand J, Sharma P, Farrall M, Sudlow CL, Rothwell PM, Dichgans M, Donnelly P, Markus HS, Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke., Nature genetics, 44, 3, 2012, 328-33 | en |
| dc.identifier.other | Y | en |
| dc.description | PUBLISHED | en |
| dc.description.abstract | Genetic factors have been implicated in stroke risk but few replicated associations have been
reported. We conducted a genome-wide association study (GWAS) in ischemic stroke and its
subtypes in 3,548 cases and 5,972 controls, all of European ancestry. Replication of potential
signals was performed in 5,859 cases and 6,281 controls. We replicated reported associations
between variants close to
PITX2
and
ZFHX3
with cardioembolic stroke, and a 9p21 locus with
large vessel stroke. We identified a novel association for a SNP within the histone deacetylase 9
(
HDAC9
) gene on chromosome 7p21.1 which was associated with large vessel stroke including
additional replication in a further 735 cases and 28583 controls (rs11984041, combined P =
1.87?10
?11
, OR=1.42 (95% CI) 1.28-1.57). All four loci exhibit evidence for heterogeneity of
effect across the stroke subtypes, with some, and possibly all, affecting risk for only one subtype.
This suggests differing genetic architectures for different stroke subtypes | en |
| dc.description.sponsorship | The principal funding for this study was provided by the Wellcome Trust, as part of the Wellcome Trust Case
Control Consortium 2 project (085475/B/08/Z and 085475/Z/08/Z and WT084724MA). For details of other funding
support see Supplementary MaterialWe thank S. Bertrand, J. Bryant, S.L. Clark, J.S. Conquer, T. Dibling, J.C. Eldred, S. Gamble, C. Hind, M.L. Perez,
C.R. Stribling, S. Taylor and A. Wilk of the Wellcome Trust Sanger Institute?s Sample and Genotyping Facilities
for technical assistance. We acknowledge use of the British 1958 Birth Cohort DNA collection, funded by the
Medical Research Council grant G0000934 and the Wellcome Trust grant 068545/Z/02, and of the UK National
Blood Service controls funded by the Wellcome Trust. We thank W. Bodmer and B. Winney for use of the People
of the British Isles DNA collection, which was funded by the Wellcome Trust.
We thank the following who contributed to collection, phenotyping, sample processing and data management for
the different cohorts. Oxford Vascular Study: Annette Burgess, Anila Syed, Nicola Paul. Edinburgh Stroke Study:
Martin Dennis, Peter Sandercock, Charles Warlow, Simon Hart, Sarah Keir, Joanna Wardlaw, Andrew Farrall,
Gillian Potter, Aidan Hutchison, Mike McDowall. Aberdeen: Alireza Pasdar, Helen Clinkscale. Glasgow: Peter
Higgins. ISGS: T. G. Brott, R. D. Brown, S. Silliman, M. Frankel, D. Case, S. Rich, J. Hardy, A Singleton. GEOS:
Mary J Sparks, Kathy Ryan, John Cole, Marcella Wozniak, Barney Stern, Robert Wityk, Constance Johnson, David
Buchholz. Australian Stroke Genetics Collaborative membership: Jane Maguire, Simon Koblar, Jonathan Golledge,
Jonathan Surm, Graeme Hankey, Jim Jannes, Martin Lewis, Rodney Scott, Lisa Lincz; Pablo Moscato; Ross Baker. | en |
| dc.format.extent | 328-33 | en |
| dc.language.iso | en | en |
| dc.relation.ispartofseries | Nature genetics | en |
| dc.relation.ispartofseries | 44 | en |
| dc.relation.ispartofseries | 3 | en |
| dc.rights | Y | en |
| dc.subject | Cerebrovascular disease (stroke) | en |
| dc.subject.lcsh | Cerebrovascular disease (stroke) | en |
| dc.title | Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. | en |
| dc.type | Journal Article | en |
| dc.type.supercollection | scholarly_publications | en |
| dc.type.supercollection | refereed_publications | en |
| dc.identifier.peoplefinderurl | http://people.tcd.ie/acorvin | en |
| dc.identifier.rssinternalid | 83823 | en |
| dc.contributor.sponsor | Wellcome Trust | en |
| dc.contributor.sponsorGrantNumber | WT084724MA | en |
| dc.contributor.sponsor | Medical Research Council (MRC) | en |
| dc.contributor.sponsorGrantNumber | G0000934 | en |
| dc.contributor.sponsor | Wellcome Trust | en |
| dc.contributor.sponsorGrantNumber | 085475/Z/08/Z | en |
| dc.contributor.sponsor | Wellcome Trust | en |
| dc.contributor.sponsorGrantNumber | 085475/B/08/Z | en |
| dc.contributor.sponsor | Wellcome Trust | en |
| dc.contributor.sponsorGrantNumber | 068545/Z/02 | en |
| dc.identifier.uri | http://hdl.handle.net/2262/66915 | |
