The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm

Research output: Contribution to journalJournal articleResearchpeer-review

Anna Helgadottir, Gudmar Thorleifsson, Kristinn P Magnusson, Solveig Grétarsdottir, Valgerdur Steinthorsdottir, Andrei Manolescu, Gregory T Jones, Gabriel J E Rinkel, Jan D Blankensteijn, Antti Ronkainen, Juha E Jääskeläinen, Yoshiki Kyo, Guy M Lenk, Natzi Sakalihasan, Konstantinos Kostulas, Anders Gottsäter, Andrea Flex, Hreinn Stefansson, Torben Hansen, Gitte Andersen & 48 others Shantel Weinsheimer, Knut Borch-Johnsen, Torben Jørgensen, Svati H Shah, Arshed A Quyyumi, Christopher B Granger, Muredach P Reilly, Harland Austin, Allan I Levey, Viola Vaccarino, Ebba Palsdottir, G Bragi Walters, Thorbjorg Jonsdottir, Steinunn Snorradottir, Dana Magnusdottir, Gudmundur Gudmundsson, Robert E Ferrell, Sigurlaug Sveinbjornsdottir, Juha Hernesniemi, Mika Niemelä, Raymond Limet, Karl Andersen, Gunnar Sigurdsson, Rafn Benediktsson, Eric L G Verhoeven, Joep A W Teijink, Diederick E Grobbee, Daniel J Rader, David A Collier, Oluf Pedersen, Roberto Pola, Jan Hillert, Bengt Lindblad, Einar M Valdimarsson, Hulda B Magnadottir, Cisca Wijmenga, Gerard Tromp, Annette F Baas, Ynte M Ruigrok, Andre M van Rij, Helena Kuivaniemi, Janet T Powell, Stefan E Matthiasson, Jeffrey R Gulcher, Gudmundur Thorgeirsson, Augustine Kong, Unnur Thorsteinsdottir, Kari Stefansson

Recently, two common sequence variants on 9p21, tagged by rs10757278-G and rs10811661-T, were reported to be associated with coronary artery disease (CAD) and type 2 diabetes (T2D), respectively. We proceeded to further investigate the contributions of these variants to arterial diseases and T2D. Here we report that rs10757278-G is associated with, in addition to CAD, abdominal aortic aneurysm (AAA; odds ratio (OR) = 1.31, P = 1.2 x 10(-12)) and intracranial aneurysm (OR = 1.29, P = 2.5 x 10(-6)), but not with T2D. This variant is the first to be described that affects the risk of AAA and intracranial aneurysm in many populations. The association of rs10811661-T to T2D replicates in our samples, but the variant does not associate with any of the five arterial diseases examined. These findings extend our insight into the role of the sequence variant tagged by rs10757278-G and show that it is not confined to atherosclerotic diseases.
Original languageEnglish
JournalNature Genetics
Volume40
Issue number2
Pages (from-to)217-24
Number of pages7
ISSN1061-4036
DOIs
Publication statusPublished - 2008

Bibliographical note

Keywords: Adult; Aged; Alleles; Aortic Aneurysm, Abdominal; Case-Control Studies; Chi-Square Distribution; Chromosomes, Human, Pair 9; European Continental Ancestry Group; Female; Gene Frequency; Genetic Markers; Genetic Variation; Haplotypes; Homozygote; Humans; Intracranial Aneurysm; Likelihood Functions; Linkage Disequilibrium; Male; Middle Aged; Myocardial Infarction; Odds Ratio; Polymorphism, Single Nucleotide; Prevalence; Probability; Risk Factors; Sequence Analysis, DNA

ID: 13205960