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【bio-news】发现心脏疾病危险因子基因
发现心脏疾病危险因子基因
by NICHOLAS WADE
Published: May 4, 2007
Two rival teams of scientists have discovered a common genetic variation that increases the risk of heart disease up to 60 percent in people of European descent.
两对手研究团队已发现在有欧洲血统的人中，近60%的人具有一个共同的心脏病危险因子遗传变异。
The scientists say they hope a test for the variant can be developed to enable doctors to assess patients at risk more accurately and to recommend early interventions like cholesterol-lowering statins and methods to reduce blood pressure. Heart disease is the leading cause of death worldwide.
科学家们希望检测该变异将来能帮助医生更加准确的评价患者的风险，并尽早给与处理，如降脂药和降压措施。心脏病是全世界的头号杀手。
The genetic variant is so common that some 50 percent of people in European populations carry one copy of it, and about 20 percent of people have inherited two copies, one from each parent. It is much less prevalent in people of African descent, the scientists said.
该遗传变异相当普遍，50%左右的欧洲人就有其种的一个拷贝，20%的人继承了分别来自父母的2个拷贝。科学家说这在非洲人种中并没有如此的普遍。
How it works is not yet known, but carriers of a single copy have a 15 percent to 20 percent greater risk of heart disease, while those with two copies are up to 60 percent more likely to develop heart disease than people who have none. The risk is even higher for people who suffer a heart attack at an early age, defined as men under 50 and women under 60.
具体的作用机制还不清楚。但是和没有这种变异的人相比，携带一个拷贝的人患心脏病的风险就增加了15%—20%，而携带2个拷贝的就增加近60%。那些年轻时（男性50岁之前，女性60岁之前）就有心脏病发病的风险就更高了。
The new finding, published online yesterday in the journal Science, is one of a spate of discoveries about the genetic bases of common diseases. Last week seven new genetic variants involved in the most common form of diabetes were identified, and a batch of new genes from other common diseases is expected to be reported in the next few weeks.
作为常见疾病基因基础的大量规模发现之一，该发现发表在昨天的《科学》杂志上。上周7个常见类型糖尿病相关的遗传变异也被明确，另外一批其他常见病的新基因也将在未来的几周发布。
These discoveries are a long-promised fruit of the $3 billion Human Genome Project, which was essentially completed in 2003. There have been two principal approaches to scanning the genome for disease genes, which are culminating in photo-finish results by the proponents of each method.
One competitor is DeCode Genetics, a private company based in Reykjavik, Iceland, that has used the comprehensive health care records and known genealogy of the Icelandic population to track disease. DeCode has dominated the gene-finding field for the last several years.
这些发现使2003年就完成耗资30亿的人类基因组计划的应有成果。寻找基因组内的疾病基因有两大方法，都有各自的支持者，最后的结果是打成平手。一家是位于冰岛首都雷克亚末的私人公司DeCode Genetics。他们利用完善的医疗保健记录和已知的冰岛人口家谱来追踪疾病。DeCode在近几年已经控制了基因发现领域。
DeCode’s rivals are medical researchers based at universities in the United States and Europe. They have made a slower start because, without an Icelandic-type data set, they have had to wait for construction of the HapMap, a survey of common genetic variations on the human genome in Africans, Asians and Europeans. These common variations, known as SNPs or “snips,” are thought to be the genetic bases of the common diseases.
DeCode的对手是美国和欧洲各大学的医学研究者。由于没有像冰岛一样的资料体系，他们需得等到HapMap构建完成，HapMap是关于非洲、亚洲和欧洲人类基因组常规基因变异的调查，所以他们起步较晚。这些常规变异就是人们熟悉的SNP或“snips”，被认为是常见疾病的基因基础。
Both sides have been helped by a technical development, the construction by companies like Affymetrix and Illumina of instruments known as microarrays or chips that can now detect up to 500,000 snips. With the chips, the genomes of patients with a disease can be compared with those of healthy people, allowing snips that seem associated with the disease to be identified.
技术进步给两面都带来了极大的帮助。像Affymetrix和Illumina构建公司的微阵列或芯片工具现在已能检测到50万个SNP。有了这样的芯片，某疾病的病人的基因组就可以和健康人比对，从而发现和疾病相关的SNP。
Last week both DeCode and three academic consortiums reported new diabetes genes. This week’s reports on heart disease come from DeCode and another academic consortium, led by Dr. Ruth McPherson of the University of Ottawa Heart Institute and Jonathan Cohen of the Southwestern Medical Center at the University of Texas in Dallas.
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作者:admin@医学,生命科学 2011-03-21 05:11
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