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高智商、抑郁、注意力缺陷和自闭的基因都找到了

GLENN FLEISHMAN 2018年07月02日

具有高智商基因优势的人寿命可能更长,但也可能会出现自闭症状。

祖源和DNA测试网站MyHeritage(我的遗传)成立了专用服务器,存储了9200万用户的账号邮箱地址和哈希密码。图:Alfred Pasieka—Getty Images/Science Photo Library

《自然基因》(Nature Genetics)6月25日发表的两项研究称,高智商和幸福感由1000种基因控制——只占全部基因的4%——引发抑郁、焦虑、精神分裂的基因种类甚至更少。具有高智商基因优势的人寿命可能更长,但也可能会出现自闭症状。

利用该研究,可以更好地诊断自闭症、注意力缺乏障碍症,识别可能患上阿兹海默综合症的人。此外,通过了解这些基因,我们可以使用基因疗法修改基因直接治疗有关病症或者减患病风险,目前基因疗法对某些疾病的治疗正处于临床测试阶段。

因为上述研究发现了决定智商的潜在机制,可能会引发人们对基因造成智力差异以及是否允许有条件的人接受治疗获得寿命产生争议。这项研究不分种族、民族、性别或其他类似因素,然而人们短期内上没有能力通过调整一长串基因改变人类。

此前的研究表明,智商高低及患上抑郁和其它神经质的风险都是可遗传的。但是基因的作用机制仍不明晰,虽然越来越多的致病基因被发现。

上述两项研究为我们查明哪些基因可以影响日常行为和智力成就提供了重要方向。

神经质被认为可能会导致抑郁、焦虑、精神分裂等一系列问题,降低生活质量。欧洲、美国和23andMe公司对神经质进行了研究,分析了近45万人的基因特点及问卷调查结果,发现近600种基因、136个基因染色体区域(基因位点)和神经质有很大关系。研究还发现,抑郁和焦虑的路径可能不同。

阿姆斯特丹自由大学的丹尼尔·普斯特胡玛还进行了另外一项研究,参与该项目的研究人员和机构数量更多,遍布世界各地。研究分析了30万人的数据,探寻基因与智商间的关系,发现1016种基因、205个点位都和智商有关,并且有利于降低某些疾病的患病风险,其中绝大多数基因都是新发现。

这些疾病包括阿兹海默综合症和注意力缺陷障碍症。上述研究还表明,智商越高可能意味着寿命越长,但也越容易孤僻。

这两项新研究的完成有赖于越来越多的人进行族谱分析,这种基因分析研究的是基因特点而非完整的基因序列。全球已经有几十万人同意将他们的基因数据、对应的健康信息、问卷调查和认知测试用于研究。然而这些研究数据几乎都来自于美国和少数欧洲国家的人。

荟萃分析需要将多个相近研究的数据重新进行检查,利用统计方法去除错误、强化主要结论。因此通过荟萃分析,有时会发现一组研究结果相互冲突,有时会得出更加缜密的结论。

这两项研究并未提出确凿的结论,但是为未来研究提供了重要指导,能够将数据分析进行更直接的配对和分析。(财富中文网)

译者:Agatha 

Intelligence and a sense of well-being may result from just over 1,000 of our genes—as little as 4% of our genome—while depression, anxiety, and schizophrenia could be caused by even fewer, according to two studies published in Nature Genetics on June 25.

People with genetic advantages towards intelligence may live longer, too, but also be more likely to have symptoms associated with autism.

The impact of this research could be better diagnoses of autism and ADHD, and of people at risk for depression, Alzheimer’s, and schizophrenia. Beyond diagnosis, a better understand of these genes could allow direct treatment for—or the reduction of risk of developing—diseases or psychiatric traits through gene therapy, a method of directly modifying genes that is proving itself in clinical testing for particular conditions.

Because the research reveals underlying mechanisms that contribute to intelligence, it could help fuel controversies about genetically based differences in intelligence, as well as whether to allow those who could afford it to receive therapy that might let them live longer. This study didn’t look into race, ethnicity, gender, or similar factors, however, and the ability to manipulate a large set of genes to change humans isn’t on the horizon.

Previous research has shown that both above- and below-average intelligenceand a risk for depression and other aspects of neuroticism can be inherited. But the genetic mechanisms have remained murky, even as ever more genes that contribute to a variety of physical diseases have been mapped.

These two studies provide significant direction in identifying the genes that can affect everyday behavior and intellectual achievement.

One study examined neuroticism, considered a risk factor for a host of traits that can degrade the quality of life, including depression, anxiety, and schizophrenia. Examining genetic traits and surveys from nearly 450,000 people, researchers in Europe and the U.S., and from the company 23andMe found almost 600 genes and 136 regions on chromosomes (“genomic loci”) that have significant correlations with those aspects of neuroticism. Depression and worry seemed to have different pathways, the study found.

The other study, which shared as corresponding author, Danielle Posthuma of Vrije Universiteit Amsterdam, and had an even larger array of researchers and institutions working around the world, examined data from just under 300,000 people to draw connections on intelligence. The study found 1,016 genes and 205 locations, nearly all of them previously unconnected with intelligence, had a correlation not just with intelligence, but with a reduction in risk of unrelated conditions.

That included Alzheimer’s and ADHD. It also found an association with higher indications of intelligence and both longer lives and greater incidence of autism.

The two new studies rely on the increasingly large number of people who have been genotyped, a form of genetic analysis that identifies genetic traits rather than full gene sequences. Globally, hundreds of thousands of people have agreed to have their genetic data used anonymously in studies paired with a variety of health information, questionnaires, and cognitive tests. However, these studies rely almost entirely on people living in the United States and a few European countries.

A meta-analysis relies on re-examining data from multiple studies with enough of a basis of similarity to remove error and reinforce key findings via statistical methods. As a result, meta-analyses can sometimes throw findings of a group of studies into doubt, or provide even more rigorous reinforcement.

These two studies, rather than providing firm conclusions, offer enormous guidance for further research that more directly connects and tests the statistical analyses.

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