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Published online: 16 March 2007; | doi:10.1038/news070312-9
How fat genes differ from thin ones
Resequencing effort unpicks genetics of body extremes.
Erika Check
Researchers have used a new technique to hunt for rare genetic quirks that explain why some people are extremely fat or very thin.
The researchers, led by Len Pennacchio of the Lawrence Berkeley National Laboratory in California, studied 757 Canadians from Ottawa. Half of the participants were chosen because they were fatter than 95 of the general population for their height: on average they weighed 125 kilograms. The other half was thinner than 90% of the population, with a mean weight of 57 kilograms.
The team examined 58 genes known to be related to obesity, appetite, or the conversion of food into energy, in every participant. They looked for tiny differences between people in the series of chemical building blocks that make up each gene. This technique, called medical sequencing or resequencing, aims to discover rare genetic variations that may subtly influence particular traits — including body size.
Most previous genetic trawls have focused on using the HapMap — a catalogue of common genetic variants shared by most people with a certain disease. Resequencing is different, as it looks for genetic quirks that are unique to just a few individuals. Resequencing studies have been used to find variations that may cause cancer1 and differences in cholesterol2, whereas HapMap studies have been used to hunt for more common variations that contribute to a range of conditions, including diabetes (see 'Broad sweep of genome zeroes in on diabetes').
Small pieces of the puzzle
Pennacchio's team found 1,074 genetic variants in the sequenced genes, they report in the American Journal of Human Genetics3. Most of these variants were rare, meaning they were found in less than 1% of the study participants. The fat participants had significantly more variation in the genes known to be linked to severe obesity. But when the team looked for the same rare variants in family members of the affected participants, they couldn't link the genetic difference directly to body size. So each variant on its own isn't enough on its own to make a person fat or thin.
"Obesity is such a complex condition — it's not a black-and-white thing — so it doesn't mean these genes might not contribute to weight differences, it just says they're not clearly causative on their own," Pennacchio says.
Scientists are unsure how much rare and common genetic variants contribute to disease, especially in complex disorders such as obesity, which are caused by multiple environmental and inherited factors. And it is proving hard to pin down — at least for now. Resequencing studies are more difficult and expensive than HapMap studies, so fewer scientists have done them.
"We could show that there are rare variants that have a significant difference between obese and lean subjects, but even with the amount of sequencing we've done, we can only scratch the surface," Pennacchio says.
As the cost of resequencing studies drops, Pennacchio predicts that the problem will be cracked. "This is going to be a big growth area for the field."
Visit our newsblog to read and post comments about this story.
References
Greenman C., et al. Nature, 446 . 153 - 158 (2007). | Article |
Cohen J. C., et al. Science, 305 . 869 - 872 (2004). | Article | PubMed | ISI | ChemPort |
Ahituv N., et al. American Journal of Human Genetics., 80 . 779 - 791 (2007). | PDF |
[U]http://www.nature.com/news/2007/070312/full/070312-9.html[/U]
Published online: 16 March 2007;
网上发表时间：2007－3－16
How fat genes differ from thin ones
肥胖基因与消瘦基因有何不同
Resequencing effort unpicks genetics of body extremes.
Erika Check
基因测序的努力揭开了人体遗传学的奥秘
Erika Check
Researchers have used a new technique to hunt for rare genetic quirks that explain why some people are extremely fat or very thin.
研究者们使用了一种新的技术来探求罕见基因的特性，从而能够解释有些人非常胖而有些人则非常瘦。
The researchers, led by Len Pennacchio of the Lawrence Berkeley National Laboratory in California, studied 757 Canadians from Ottawa. Half of the participants were chosen because they were fatter than 95 of the general population for their height: on average they weighed 125 kilograms. The other half was thinner than 90% of the population, with a mean weight of 57 kilograms.
加利福尼亚州劳伦斯伯克利国家实验室的Len Pennacchio所领导的研究者们研究了757名来自渥太华的加拿大人。其中一半被选择是因为他们比95％的一般人群要胖：他们的平均体重是125公斤。而另外一半瘦于90％的一般人群，他们的平均体重是57公斤。
The team examined 58 genes known to be related to obesity, appetite, or the conversion of food into energy, in every participant. They looked for tiny differences between people in the series of chemical building blocks that make up each gene. This technique, called medical sequencing or resequencing, aims to discover rare genetic variations that may subtly influence particular traits — including body size.
研究小组检查了每一个参与者体内的58个与肥胖，食欲，或食物转化为能量相关的基因。他们在寻找人与人之间化学标准组件串联的微小的差别，而正是这些化学标准组件串联起来构成每一个基因。这种技术叫做医学基因测序或基因序列分析，目的在于发现一些罕见的基因变异，而它们可以精细的影响到一些特殊的性状――包括体格大小。
Most previous genetic trawls have focused on using the HapMap — a catalogue of common genetic variants shared by most people with a certain disease. Resequencing is different, as it looks for genetic quirks that are unique to just a few individuals. Resequencing studies have been used to find variations that may cause cancer1 and differences in cholesterol2, whereas HapMap studies have been used to hunt for more common variations that contribute to a range of conditions, including diabetes (see 'Broad sweep of genome zeroes in on diabetes').
大多数以前的基因拉网式检查注重的是使用HapMap（人类基因组遗传整合图谱）――由许多有特定疾病的人共享出来的常见的遗传变异所构成的目录。基因测序是不一样的，因为它寻找的是一些独特的遗传特性而仅仅在一部分人含有。基因测序研究已经被用于寻找那些可以导致癌症和胆固醇异常的变异情况，而HapMap研究可以被用于探求那些更加常见的变异，这些变异可以导致包括糖尿病在内的很大范围的疾病。
Small pieces of the puzzle
一小部分的困惑
Pennacchio's team found 1,074 genetic variants in the sequenced genes, they report in the American Journal of Human Genetics3. Most of these variants were rare, meaning they were found in less than 1% of the study participants. The fat participants had significantly more variation in the genes known to be linked to severe obesity. But when the team looked for the same rare variants in family members of the affected participants, they couldn't link the genetic difference directly to body size. So each variant on its own isn't enough on its own to make a person fat or thin.
Pennacchio的小组在被测序基因中发现了1074处变异，他们报告在«美国人类遗传学杂志»上了。这些变异的大多数都是罕见的，也就是说它们仅能够在不到1％的研究参与者中被发现。肥胖参与者有着明显更多的变异存在于那些已知与严重肥胖密切相关的基因。但是当研究小组在受累参与者的家庭成员中寻找相同的罕见变异时，他们不能把基因差异同体格大小直接联系起来。所以每一处变异都对人的胖瘦有影响，但却不可能单独作用来导致人的体型变化。
"Obesity is such a complex condition — it's not a black-and-white thing — so it doesn't mean these genes might not contribute to weight differences, it just says they're not clearly causative on their own," Pennacchio says.
“肥胖是一种非常复杂的情况――它不是一个黑白分明的事情――所以这并不意味着这些基因对体重差异没有影响，现在只能说它们不是完全依靠自己来导致人的胖瘦，”Pennacchio说。
Scientists are unsure how much rare and common genetic variants contribute to disease, especially in complex disorders such as obesity, which are caused by multiple environmental and inherited factors. And it is proving hard to pin down — at least for now. Resequencing studies are more difficult and expensive than HapMap studies, so fewer scientists have done them.
科学家们不肯定到底有多少罕见的和常见的基因变异对疾病有作用，特别是那些诸如肥胖的复杂疾病，即它们是由多种环境和遗传因素共同导致的。而且至少到目前为止，已经证明非常困难来确定它们的原因。基因测序研究比HapMap研究更加困难和昂贵，所以较少的科学家在做这种研究。
"We could show that there are rare variants that have a significant difference between obese and lean subjects, but even with the amount of sequencing we've done, we can only scratch the surface," Pennacchio says.
“我们可以展示现在存在一些罕见的变异，它们在肥胖的和瘦的受试者之间有着明显的差异。但即便是我们已经做了大量的测序工作，我们也只是做了一些表面的研究，”Pennacchio说。
As the cost of resequencing studies drops, Pennacchio predicts that the problem will be cracked. "This is going to be a big growth area for the field."
由于基因测序研究的费用逐渐下降，Pennacchio预测这个问题最终会被攻克。“这个领域将会成为一个巨大的有发展前景的区域。”
编译后：
网上发表时间：2007－3－16
肥胖基因与消瘦基因有何不同
基因测序的努力揭开了人体遗传学的奥秘
Erika Check
研究者们现在使用了一种新的技术来探求罕见基因的特性，从而能够解释有些人非常胖而有些人则非常瘦。
加利福尼亚州劳伦斯伯克利国家实验室的Len Pennacchio所领导的研究者们研究了757名来自渥太华的加拿大人。其中一半被选择是因为他们比95％的一般人群要胖：他们的平均体重是125公斤。而另外一半瘦于90％的一般人群，他们的平均体重是57公斤。
研究小组检查了每一个参与者体内的58个与肥胖，食欲，或食物转化为能量相关的基因。他们在寻找人与人之间化学标准组件串联的微小的差别，而正是这些化学标准组件串联起来构成每一个基因。这种技术叫做医学基因测序或基因序列分析，目的在于发现一些罕见的基因变异，而它们可以精细的影响到一些特殊的性状――包括体格大小。
大多数以前的基因拉网式检查注重的是使用HapMap（人类基因组遗传整合图谱）――由许多有特定疾病的人共享出来的常见的遗传变异所构成的目录。基因测序是完全不同的，因为它寻找的是一些独特的遗传特性而仅仅在一部分人中含有。基因测序研究已经被用于寻找那些可以导致癌症和胆固醇异常的变异情况，而HapMap研究可以被用于探求那些更加常见的变异，这些变异可以导致包括糖尿病在内的很大范围的疾病。
一小部分的困惑
Pennacchio的小组在«美国人类遗传学杂志»上报告说，他们在被测序基因中发现了1074处变异。大多数这些变异都是罕见的，也就是说它们仅能够在不到1％的研究参与者中被发现。肥胖参与者有着明显更多的变异存在于那些已知与严重肥胖密切相关的基因上。但是当研究小组在受累参与者的家庭成员中寻找相同的罕见变异时，他们却不能把基因差异同体格大小直接联系起来。所以每一处变异都对人的胖瘦有影响，但却不可能单独作用来导致人的体型变化。
Pennacchio说：“肥胖是一种非常复杂的情况――它不是一件黑白分明的事情――所以这并不意味着这些基因对体重差异没有影响，现在只能说它们不是完全依靠自己来导致人的胖瘦。”
科学家们不肯定到底有多少罕见的和常见的基因变异对疾病有影响，特别是那些诸如肥胖的复杂疾病，因为它们是由多种环境和遗传因素共同导致的。而且至少到目前为止，事实已经证明确定它们的原因是非常困难的。基因测序研究比HapMap研究更加困难和昂贵，所以较少的科学家在做这种研究。
Pennacchio说：“我们现在可以展示这儿存在一些罕见的变异，它们在肥胖的和瘦的受试者之间有着明显的差异。但即便是我们已经做了大量的测序工作，我们也只是做了一些表面的研究而已。”
由于基因测序研究的费用正在逐渐下降，Pennacchio预测这个问题最终会被攻克。“这个领域将会成为一个巨大的有发展前景的区域。”
以下内容与大家切磋，不对之处，敬请指正。
1. Researchers have used a new technique to hunt for rare genetic quirks that explain why some people are extremely fat or very thin.
研究者们使用了一种新的技术来探求罕见基因的特性，从而能够解释有些人非常胖而有些人则非常瘦。
“...从而能够解释为什么...。” 或 “从而能够解释...的原因。” 是否更符合汉语习惯？
2. They looked for tiny differences between people in the series of chemical building blocks that make up each gene.
他们在寻找人与人之间化学标准组件串联的微小的差别，而正是这些化学标准组件串联起来构成每一个基因。
chemical building blocks: 翻译为“化学标准组件”，大家也都能明白。但实际意思也就是组成DNA的“碱基”，本人愚见，在编译时译为“碱基”或许更为好点。
3. Most previous genetic trawls have focused on using the HapMap — a catalogue of common genetic variants shared by most people with a certain disease.
大多数以前的基因拉网式检查注重的是使用HapMap（人类基因组遗传整合图谱）――由许多有特定疾病的人共享出来的常见的遗传变异所构成的目录。
...患有某中特定疾病的大多数人所共有的常见遗传变异目录。
4. Resequencing is different, as it looks for genetic quirks that are unique to just a few individuals.
基因测序是不一样的，因为它寻找的是一些独特的遗传特性而仅仅在一部分人含有。
...因为它寻找的是一些仅仅出现在少数个体身上的独特的遗传变异。
1。我们都知道基因即DNA片段，而DNA的基本组成单位是脱氧核糖核苷酸，它是由磷酸，戊糖，和脱氧核糖（即碱基）所组成。
我在翻译的时候也考虑过这个问题，是翻译成“化学标准组件”，还是“脱氧核糖核苷酸”，后来一想还是忠于原文吧。
但是楼上的说是“碱基”，我认为应该不妥吧。
2。关于Hapmap.
HapMap是人类基因组中常见遗传多态位点的目录，它描述了这些变异的形式、在DNA上存在的位置、在同一群体内部和不同人群间的分布状况。一句话总结，它反应的是遗传多态性。
每一个人在一个基因位点上的变异情况都是不同的，而这个目录就是收集这些不同的变异，我觉得“共享出来的”和“共有的”还是有差别的吧。
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发表于 2007-3-21 21:44:03
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