The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm
The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm
复制标题
DOI：
10.1038/ng.72
复制
发表时间：
2008-02-01
期刊：
影响因子：
30.8
通讯作者：
Stefansson, Kari
中科院分区：
文献类型：
--
作者：
Helgadottir, Anna;Thorleifsson, Gudmar;Stefansson, Kari
最近，据报道，9 p21上的两个常见序列变体（标记为rs 10757278-G和rs 10811661-T）分别与冠状动脉疾病（CAD）（1-4）和2型糖尿病（T2 D）（5-7）相关。我们继续进一步研究这些变异对动脉疾病和T2 D的贡献。在此，我们报告rs 10757278-G除了与CAD相关外，还与腹主动脉瘤（AAA;比值比（OR）1.31，P = 1.2 x 10（-12））和颅内动脉瘤（OR = 1.29，P = 2.5 x 10（-6））相关，但与T2 D无关。该变体是第一个描述的影响许多人群中AAA和颅内动脉瘤风险的变体。rs 10811661-T与T2 D的关联在我们的样本中重复，但该变体与检查的五种动脉疾病中的任何一种都不相关。这些发现扩展了我们对rs 10757278-G标记的序列变体的作用的认识，并表明它不仅限于动脉粥样硬化疾病。
Recently, two common sequence variants on 9p21, tagged by rs10757278-G and rs10811661-T, were reported to be associated with coronary artery disease (CAD)(1-4) and type 2 diabetes (T2D)(5-7), 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.