Helgadottir Anna, Thorleifsson Gudmar, Manolescu Andrei, Gretarsdottir Solveig, Blondal Thorarinn, Jonasdottir Aslaug, Jonasdottir Adalbjorg, Sigurdsson Asgeir, Baker Adam, Palsson Arnar, Masson Gisli, Gudbjartsson Daniel F, Magnusson Kristinn P, Andersen Karl, Levey Allan I, Backman Valgerdur M, Matthiasdottir Sigurborg, Jonsdottir Thorbjorg, Palsson Stefan, Einarsdottir Helga, Gunnarsdottir Steinunn, Gylfason Arnaldur, Vaccarino Viola, Hooper W Craig, Reilly Muredach P, Granger Christopher B, Austin Harland, Rader Daniel J, Shah Svati H, Quyyumi Arshed A, Gulcher Jeffrey R, Thorgeirsson Gudmundur, Thorsteinsdottir Unnur, Kong Augustine, Stefansson Kari
deCODE genetics, Sturlugata 8, IS-101 Reykjavik, Iceland.
Science. 2007 Jun 8;316(5830):1491-3. doi: 10.1126/science.1142842. Epub 2007 May 3.
The global endemic of cardiovascular diseases calls for improved risk assessment and treatment. Here, we describe an association between myocardial infarction (MI) and a common sequence variant on chromosome 9p21. This study included a total of 4587 cases and 12,767 controls. The identified variant, adjacent to the tumor suppressor genes CDKN2A and CDKN2B, was associated with the disease with high significance. Approximately 21% of individuals in the population are homozygous for this variant, and their estimated risk of suffering myocardial infarction is 1.64 times as great as that of noncarriers. The corresponding risk is 2.02 times as great for early-onset cases. The population attributable risk is 21% for MI in general and 31% for early-onset cases.
心血管疾病的全球流行需要改进风险评估和治疗。在此，我们描述了心肌梗死（MI）与9号染色体p21上一个常见序列变异之间的关联。本研究共纳入4587例病例和12767例对照。所鉴定的变异位于肿瘤抑制基因CDKN2A和CDKN2B附近，与该疾病具有高度显著性关联。人群中约21%的个体对此变异为纯合子，他们患心肌梗死的估计风险是非携带者的1.64倍。早发病例的相应风险为2.02倍。总体而言，该变异对心肌梗死的人群归因风险为21%，对早发病例为31%。
