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Submitted on March 21, 2007
Accepted on April 26, 2007
A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction
Anna Helgadottir 1, Gudmar Thorleifsson 1, Andrei Manolescu 1, Solveig Gretarsdottir 1, Thorarinn Blondal 1, Aslaug Jonasdottir 1, Adalbjorg Jonasdottir 1, Asgeir Sigurdsson 1, Adam Baker 1, Arnar Palsson , Gisli Masson 1, Daniel Gudbjartsson 1, Kristinn P. Magnusson 1, Karl Andersen 2, Allan I. Levey 3, Valgerdur M. Backman 1, Sigurborg Matthiasdottir 1, Thorbjorg Jonsdottir 1, Stefan Palsson 1, Helga Einarsdottir 1, Steinunn Gunnarsdottir 1, Arnaldur Gylfason 1, Viola Vaccarino 3, W. Craig Hooper 3, Muredach P. Reilly 4, Christopher B. Granger 5, Harland Austin 3, Daniel J. Rader 4, Svati H. Shah 5, Arshed A. Quyyumi 3, Jeffrey R. Gulcher 1, Gudmundur Thorgeirsson 3, Unnur Thorsteinsdottir 1, Augustine Kong 1*, Kari Stefansson 1*
1 deCODE genetics Inc, Reykjavik, Iceland. 2 National University Hospital, Reykjavik, Iceland. 3 Emory University School of Medicine, Atlanta, GA 30322, USA. 4 University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. 5 Duke University School of Medicine, Durham, NC 27710, USA.
* To whom correspondence should be addressed.
Augustine Kong , E-mail: augustine.kong{at}decode.is Kari Stefansson , E-mail: kstefans{at}decode.is
The global endemic of cardiovascular diseases calls for improvedrisk assessment and treatment. Here we describe an associationbetween myocardial infarction (MI) and a common sequence varianton chromosome 9p21. This study included a total of 4587 casesand 12,769 controls. The identified variant, adjacent to thetumor suppressor genes CDKN2A and CDKN2B, was associated tothe disease with high significance (P = 1.2 x 10-20). Approximately21% of individuals in the population are homozygous for thisvariant and they have an estimated 1.64-fold greater risk ofsuffering myocardial infarction than non-carriers. The correspondingrisk is 2.02-fold for early onset cases. The population attributablerisk (PAR) is 21% for MI in general and 31% for early onsetcases.
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LETTERS
Erik Rifkin, Edward Bouwer;, Kari Stefansson, and Augustine Kong (7 September 2007) Science317 (5843), 1322b.
[DOI: 10.1126/science.317.5843.1322b] |Full Text »|PDF »
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