冰岛和美国研究人员在新一期《科学》杂志上报告说，他们通过大规模调查发现，一种常见的基因变异会使人罹患心肌梗塞的几率明显增加。
冰岛“遗传解码”公司与美国埃默里大学等机构的研究人员在过去８年内调查了４５８７名曾患心肌梗塞的患者，并挑选了１２７６９名健康人作为对照组进行基因分析。
结果发现，染色体９ｐ２１区域内的一种常见基因变异会导致人罹患心肌梗塞的几率显著增加。对比分析显示，与那些该基因未变异者相比，携带这种变异基因的人患心肌梗塞的几率要高出１．６４倍，而且其早发心肌梗塞（男性在５０岁以前，女性在６０岁以前）的几率更是高出２．０２倍。
研究人员认为，他们的上述发现为研究罹患心肌梗塞的规律提供了新思路。
《冰岛评论》5月7日讯，总部设于雷克雅未克的世界著名生物制药企业---DECODE基因解码公司日前宣布，公司发现了与高风险心脏病发作相关的一组基因变体。该基因变体是冰岛实验室通过染色体分析发现的，并经过了美国实验室的证实。比照实验结果显示，含基因变体的试验者心脏病发作几率高出60%。
DECODE正计划结合新发现，检测和评估心脏病遗传风险，其细节以及以前的心脏病基因体试验情况将发表于《Science》杂志在线版，以帮助医生们获得更多信息。同时，阻断该基因变体引发心脏病的针对性药物研究也在进行中。
原始出处:
Published Online May 3, 2007 Science DOI: 10.1126/science.1142842
Reports
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@decode.is
Kari Stefansson , E-mail: kstefans@decode.is
Abstract
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 12,769 controls. The identified variant, adjacent to the tumor suppressor genes CDKN2A and CDKN2B, was associated to the disease with high significance (P = 1.2 x 10-20). Approximately 21% of individuals in the population are homozygous for this variant and they have an estimated 1.64-fold greater risk of suffering myocardial infarction than non-carriers. The corresponding risk is 2.02-fold for early onset cases. The population attributable risk (PAR) is 21% for MI in general and 31% for early onset cases.
