冰島和美國研究人員在新一期《科學(xué)》雜志上報(bào)告說,，他們通過大規(guī)模調(diào)查發(fā)現(xiàn)，一種常見的基因變異會使人罹患心肌梗塞的幾率明顯增加,。
冰島“遺傳解碼”公司與美國埃默里大學(xué)等機(jī)構(gòu)的研究人員在過去８年內(nèi)調(diào)查了４５８７名曾患心肌梗塞的患者，并挑選了１２７６９名健康人作為對照組進(jìn)行基因分析,。
結(jié)果發(fā)現(xiàn),，染色體９ｐ２１區(qū)域內(nèi)的一種常見基因變異會導(dǎo)致人罹患心肌梗塞的幾率顯著增加。對比分析顯示,，與那些該基因未變異者相比,，攜帶這種變異基因的人患心肌梗塞的幾率要高出１．６４倍，而且其早發(fā)心肌梗塞（男性在５０歲以前,，女性在６０歲以前）的幾率更是高出２．０２倍,。
研究人員認(rèn)為，他們的上述發(fā)現(xiàn)為研究罹患心肌梗塞的規(guī)律提供了新思路,。
《冰島評論》5月7日訊,，總部設(shè)于雷克雅未克的世界著名生物制藥企業(yè)---DECODE基因解碼公司日前宣布，公司發(fā)現(xiàn)了與高風(fēng)險心臟病發(fā)作相關(guān)的一組基因變體,。該基因變體是冰島實(shí)驗(yàn)室通過染色體分析發(fā)現(xiàn)的,，并經(jīng)過了美國實(shí)驗(yàn)室的證實(shí)。比照實(shí)驗(yàn)結(jié)果顯示,，含基因變體的試驗(yàn)者心臟病發(fā)作幾率高出60%,。
DECODE正計(jì)劃結(jié)合新發(fā)現(xiàn),，檢測和評估心臟病遺傳風(fēng)險，其細(xì)節(jié)以及以前的心臟病基因體試驗(yàn)情況將發(fā)表于《Science》雜志在線版,，以幫助醫(yī)生們獲得更多信息,。同時，阻斷該基因變體引發(fā)心臟病的針對性藥物研究也在進(jìn)行中,。
原始出處:
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: [email protected]
Kari Stefansson , E-mail: [email protected]
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.
