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【medical-news】Newly Discovered Genes Are Linked To World's Biggest Killer

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Newly Discovered Genes Are Linked To World's Biggest Killer

First Posted: 03/ 7/11 11:51 AM Updated: 03/ 7/11 11:51 AM, Thomson Reuters

Scientists have found 13 new gene variants that increase a person's risk of developing heart disease, the world's number one killer, in a series of large-scale international genetic studies.

The discovery of 13 previously unknown gene variations and the confirmation of around 10 more should offer clues about how heart ailments such as coronary artery disease develop, and lead to new and more effective treatments, the researchers said.

The findings also suggest it may be worth mapping someone's profile of genetic variants for heart problems as part of routine clinical care in the future, with an eye to being able to offer more personalized prevention or treatment plans.
"With such information we should be able to better identify people at high risk early on in life and quickly take the steps to neutralize that excess risk," said Themistocles Assimes of Stanford University School of Medicine in the United States, one of many scientists across the world who worked on the study.

"Although we are inching closer to that day, we will probably need to reliably identify many more variants ... over the next few years before it becomes useful to perform this genetic profiling in a doctor's office."

According to the World Health Organization (WHO), cardiovascular diseases are the world's largest killers, claiming 17.1 million lives a year. Billions of dollars are spent every year on medical devices and drugs to treat them.

Lifestyle factors such as smoking, drinking alcohol, unhealthy eating and a lack of physical exercise are known to increase the risk of heart attacks and strokes, but scientists also have been examining DNA maps to find genes that may also put people at higher cardiovascular risk.

For this study, published along with two additional papers on heart disease risk variants in the journal Nature Genetics on Sunday, an international consortium analyzed data from 14 previous so-called genome-wide association studies, which scan people's genetic profiles.

Investigators examined the complete genetic profiles of more than 22,000 people of European descent with coronary heart disease or a heart attack history and 60,000 healthy people -- making this study close to 10 times bigger than the next largest whole-genome study to date.

Combining data from multiple studies is critical to finding gene risk variants, as the genetic architecture of heart diseases is very complex.

"The signals from these gene regions are all rather subtle, making large-scale collaborations a prerequisite for any meaningful progress," Assimes said in a statement.

Researchers said their results showed that of the total of 23 variants now known, seven are linked with levels of "bad" or LDL cholesterol and one is linked with hypertension, or high blood pressure -- both known risk factors for heart disease.

But the others have no relation to known cardiovascular risk factors -- a finding the scientists said opened up new opportunities for future research and discovery.

"The lack of apparent association with the risk factors we know so well is the source of a lot of excitement concerning these results," said Sekar Kathiresan of Massachusetts General Hospital in the United States, who worked on the study.

"If these variants do not act through known mechanisms, how do they confer risk for heart disease? It suggests there are new mechanisms we don't yet understand."

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2011-03-08 09:36 浏览 : 7947 回复 : 29

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本人已认领该文，48小时内提交。如超过48小时未完成，请站友自由认领！

2011-03-08 10:38

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Newly Discovered Genes Are Linked To World's Biggest Killer
一些新发现的世界头号健康杀手——心血管疾患相关的基因

First Posted: 03/ 7/11 11:51 AM Updated: 03/ 7/11 11:51 AM, Thomson Reuters
首次发布时间：2011年3月7日上午11:51；更新时间：2011年3月7日上午11:51。汤姆森路透

Scientists have found 13 new gene variants that increase a person's risk of developing heart disease, the world's number one killer, in a series of large-scale international genetic studies.
通过一系列大规模国际基因研究，科学家近期发现了13个新的基因变异。这些基因变异能增加个体患心脏疾病风险的，而心脏疾病是目前威胁人类的世界头号健康杀手。

The discovery of 13 previously unknown gene variations and the confirmation of around 10 more should offer clues about how heart ailments such as coronary artery disease develop, and lead to new and more effective treatments, the researchers said.
研究人员表示，这次共发现了13个以往不为人知的基因变异并对二十多个基因变异的作用进行了确证，这些将有助于了解冠心病等心脏疾患是如何发生的，并引导建立针对这些疾患的新的和更有效的治疗方法。

The findings also suggest it may be worth mapping someone's profile of genetic variants for heart problems as part of routine clinical care in the future, with an eye to being able to offer more personalized prevention or treatment plans.
这些研究发现也提示着在未来将个人心脏疾患相关基因变异情况作为临床常规检查的一部分可能很有价值，借此也可以为患者提供更个体化的疾病预防措施和治疗方法。
"With such information we should be able to better identify people at high risk early on in life and quickly take the steps to neutralize that excess risk," said Themistocles Assimes of Stanford University School of Medicine in the United States, one of many scientists across the world who worked on the study.
该研究领域全世界众多科学家之一，美国斯坦福大学医学院Themistocles Assimes指出：“借助于这样的信息，我们在个体很小的时候就能筛选出哪些人有较高发生心脏疾患的风险，并迅速采取措施来消除这些风险。”

"Although we are inching closer to that day, we will probably need to reliably identify many more variants ... over the next few years before it becomes useful to perform this genetic profiling in a doctor's office."
“尽管我们正一点一点的朝这个目标前进，在未来的几年我们仍旧需要对更多的基因变异进行可靠的鉴别……这样才能让基因研究在临床上真正起作用。”

According to the World Health Organization (WHO), cardiovascular diseases are the world's largest killers, claiming 17.1 million lives a year. Billions of dollars are spent every year on medical devices and drugs to treat them.
根据世界卫生组织（WHO）的统计，心血管疾病是目前威胁人类的世界头号健康杀手，每年有1210万人罹患这类疾病，用于治疗的医疗器械和药物每年则需耗费数十亿美元。

Lifestyle factors such as smoking, drinking alcohol, unhealthy eating and a lack of physical exercise are known to increase the risk of heart attacks and strokes, but scientists also have been examining DNA maps to find genes that may also put people at higher cardiovascular risk.
现在已经知道一些生活方式，比如吸烟、饮酒、不健康饮食以及缺乏锻炼等，可增加患者发生心脏病和中风疾患的风险。但科学家也一直在对DNA图谱进行检测，寻找可能导致心血管疾患风险增加的基因。

For this study, published along with two additional papers on heart disease risk variants in the journal Nature Genetics on Sunday, an international consortium analyzed data from 14 previous so-called genome-wide association studies, which scan people's genetic profiles.
在这个研究中，一个国际基因研究团队对以往进行的14个扫描人类基因图谱的全基因组相关研究的数据进行了分析。研究的结果，和另两篇研究心脏疾病风险相关基因变异的论文一起于发表在周日出版的Nature Genetics杂志上。

Investigators examined the complete genetic profiles of more than 22,000 people of European descent with coronary heart disease or a heart attack history and 60,000 healthy people -- making this study close to 10 times bigger than the next largest whole-genome study to date.
研究人员对超过2.2万有冠心病或心脏病史的欧洲后裔和6万健康人的完整基因谱图进行了检测。这项试验考察的数据，规模接近到目前为止列在第二的试验的10倍左右。

Combining data from multiple studies is critical to finding gene risk variants, as the genetic architecture of heart diseases is very complex.
由于心脏疾患的遗传构型比较复杂，因此将多个试验的数据合并分析对于寻找基因风险变异十分重要。

"The signals from these gene regions are all rather subtle, making large-scale collaborations a prerequisite for any meaningful progress," Assimes said in a statement.
Assimes在一份陈述中说：“这些基因区域的信号均十分精细，必须采用大规模的合作才可能取得有意义的进步。”

Researchers said their results showed that of the total of 23 variants now known, seven are linked with levels of "bad" or LDL cholesterol and one is linked with hypertension, or high blood pressure -- both known risk factors for heart disease.
研究人员说现在已经知道了总共23个基因变异，其中7个和低密度脂蛋白水平有关，还有1个和高血压有关。低密度脂蛋白水平和高血压都是已知的心脏疾患风险因素。

But the others have no relation to known cardiovascular risk factors -- a finding the scientists said opened up new opportunities for future research and discovery.
但是其余的基因变异和已知的心血管风险因素并不相关，这种现象将为进一步的研究和发现提供了新的研究机会。

"The lack of apparent association with the risk factors we know so well is the source of a lot of excitement concerning these results," said Sekar Kathiresan of Massachusetts General Hospital in the United States, who worked on the study.
这个研究领域的一位研究人员，麻省总医院的Sekar Kathiresan评论说：“有些基因变异缺乏明显和我们已知的风险因素的相关性，将激励我们对这个试验结果进一步进行分析。”

"If these variants do not act through known mechanisms, how do they confer risk for heart disease? It suggests there are new mechanisms we don't yet understand."
“如果这边基因变异并不是通过已知的作用机制起作用的，那么他们是如何成为疾病的风险因素的呢？它提示我们，其中有我们现在还不清楚的新的作用机制。”

整理后为（总1121中文字）：

一些新发现的世界头号健康杀手——心血管疾患相关的基因

首次发布时间：2011年3月7日上午11:51；更新时间：2011年3月7日上午11:51。汤姆森路透

通过一系列大规模国际基因研究，科学家近期发现了13个新的基因变异。这些基因变异能增加个体患心脏疾病风险的，而心脏疾病是目前威胁人类的世界头号健康杀手。

研究人员表示，这次共发现了13个以往不为人知的基因变异并对二十多个基因变异的作用进行了确证，这些将有助于了解冠心病等心脏疾患是如何发生的，并引导建立针对这些疾患的新的和更有效的治疗方法。

这些研究发现也提示着在未来将个人心脏疾患相关基因变异情况作为临床常规检查的一部分可能很有价值，借此也可以为患者提供更个体化的疾病预防措施和治疗方法。
该研究领域全世界众多科学家之一，美国斯坦福大学医学院Themistocles Assimes指出：“借助于这样的信息，我们在个体很小的时候就能筛选出哪些人有较高发生心脏疾患的风险，并迅速采取措施来消除这些风险。”

“尽管我们正一点一点的朝这个目标前进，在未来的几年我们仍旧需要对更多的基因变异进行可靠的鉴别……这样才能让基因研究在临床上真正起作用。”

根据世界卫生组织（WHO）的统计，心血管疾病是目前威胁人类的世界头号健康杀手，每年有1210万人罹患这类疾病，用于治疗的医疗器械和药物每年则需耗费数十亿美元。

现在已经知道一些生活方式，比如吸烟、饮酒、不健康饮食以及缺乏锻炼等，可增加患者发生心脏病和中风疾患的风险。但科学家也一直在对DNA图谱进行检测，寻找可能导致心血管疾患风险增加的基因。

在这个研究中，一个国际基因研究团队对以往进行的14个扫描人类基因图谱的全基因组相关研究的数据进行了分析。研究的结果，和另两篇研究心脏疾病风险相关基因变异的论文一起于发表在周日出版的Nature Genetics杂志上。

研究人员对超过2.2万有冠心病或心脏病史的欧洲后裔和6万健康人的完整基因谱图进行了检测。这项试验考察的数据，规模接近到目前为止列在第二的试验的10倍左右。

由于心脏疾患的遗传构型比较复杂，因此将多个试验的数据合并分析对于寻找基因风险变异十分重要。

Assimes在一份陈述中说：“这些基因区域的信号均十分精细，必须采用大规模的合作才可能取得有意义的进步。”

研究人员说现在已经知道了总共23个基因变异，其中7个和低密度脂蛋白水平有关，还有1个和高血压有关。低密度脂蛋白水平和高血压都是已知的心脏疾患风险因素。

但是其余的基因变异和已知的心血管风险因素并不相关，这种现象将为进一步的研究和发现提供了新的研究机会。

这个研究领域的一位研究人员，麻省总医院的Sekar Kathiresan评论说：“有些基因变异缺乏明显和我们已知的风险因素的相关性，将激励我们对这个试验结果进一步进行分析。”

“如果这边基因变异并不是通过已知的作用机制起作用的，那么他们是如何成为疾病的风险因素的呢？它提示我们，其中有我们现在还不清楚的新的作用机制。”

2011-03-09 07:30

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• 突发！李红良被武大免职，辞任基础医学院院长，曾被饶毅质疑造假

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比较有感触，谢谢啦！！！

2011-03-12 12:06

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• 还是比较典型的图

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