9号染色体短臂21区上的同一序列变异与心肌梗死、腹主动脉瘤和颅内动脉瘤相关。
The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm.
作者信息
Helgadottir Anna, Thorleifsson Gudmar, Magnusson Kristinn P, Grétarsdottir Solveig, Steinthorsdottir Valgerdur, Manolescu Andrei, Jones Gregory T, Rinkel Gabriel J E, Blankensteijn Jan D, Ronkainen Antti, Jääskeläinen Juha E, Kyo Yoshiki, Lenk Guy M, Sakalihasan Natzi, Kostulas Konstantinos, Gottsäter Anders, Flex Andrea, Stefansson Hreinn, Hansen Torben, Andersen Gitte, Weinsheimer Shantel, Borch-Johnsen Knut, Jorgensen Torben, Shah Svati H, Quyyumi Arshed A, Granger Christopher B, Reilly Muredach P, Austin Harland, Levey Allan I, Vaccarino Viola, Palsdottir Ebba, Walters G Bragi, Jonsdottir Thorbjorg, Snorradottir Steinunn, Magnusdottir Dana, Gudmundsson Gudmundur, Ferrell Robert E, Sveinbjornsdottir Sigurlaug, Hernesniemi Juha, Niemelä Mika, Limet Raymond, Andersen Karl, Sigurdsson Gunnar, Benediktsson Rafn, Verhoeven Eric L G, Teijink Joep A W, Grobbee Diederick E, Rader Daniel J, Collier David A, Pedersen Oluf, Pola Roberto, Hillert Jan, Lindblad Bengt, Valdimarsson Einar M, Magnadottir Hulda B, Wijmenga Cisca, Tromp Gerard, Baas Annette F, Ruigrok Ynte M, van Rij Andre M, Kuivaniemi Helena, Powell Janet T, Matthiasson Stefan E, Gulcher Jeffrey R, Thorgeirsson Gudmundur, Kong Augustine, Thorsteinsdottir Unnur, Stefansson Kari
机构信息
deCODE Genetics, Sturlugata 8, IS-101 Reykjavik, Iceland.
出版信息
Nat Genet. 2008 Feb;40(2):217-24. doi: 10.1038/ng.72. Epub 2008 Jan 6.
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.
最近，据报道，由rs10757278-G和rs10811661-T标记的9号染色体短臂21区的两个常见序列变异分别与冠状动脉疾病（CAD）和2型糖尿病（T2D）相关。我们进一步研究了这些变异对动脉疾病和T2D的影响。在此我们报告，除了CAD外，rs10757278-G还与腹主动脉瘤（AAA；优势比（OR）=1.31，P = 1.2×10⁻¹²）和颅内动脉瘤（OR = 1.29，P = 2.5×10⁻⁶）相关，但与T2D无关。该变异是首次被描述的在许多人群中影响AAA和颅内动脉瘤风险的变异。rs10811661-T与T2D的关联在我们的样本中得到了重复验证，但该变异与所检测的五种动脉疾病均无关联。这些发现扩展了我们对由rs10757278-G标记的序列变异作用的认识，并表明其作用并不局限于动脉粥样硬化疾病。
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