遗传研究揭秘人类的潜在寿命

A study presented at the just-finished American Society of Human Genetics 2018 Annual Meeting in San Diego reported a way to estimate whether an individual can expect to live longer or shorter than average. 前不久，在圣地亚哥举行的2018年美国人类遗传学会年会上，一项研究报道了一种方法，可评估个体活得比平均寿命更长或更短。 An international research group studied the effect of genetic variations on lifespan across the human genome, which could improve our understanding of the diseases and cellular pathways involved in aging. 国际研究小组研究了遗传变异对整个人类基因组寿命的影响，或能提高我们对老年疾病以及与年老相关的细胞通路的认知。 In the largest ever genome-wide association study of lifespan, the researchers paired genetic data from more than 500,000 participants in the United Kingdom Biobank and other cohorts with data on the lifespan of each participant's parents. 在这项有史以来规模最大的全基因组与寿命的关联研究中，研究员将来自英国生物银行和其它来源的50多万名参与者的遗传数据与每位参与者父母的寿命数据进行配对。 They didn' t study the effects of one or more selected genes on lifespan, but looked across the whole genome to answer the question in a more open-ended way. The paper's first author Paul Timmers from the University of Edinburgh said that because the effect of any given gene is so small, the large sample size was necessary to identify genes relevant to lifespan. 他们没有研究一个或多个选定基因对寿命的影响，而是观察了整个基因组，以一种更为开放的方式回答了这个问题。该论文的第一作者保罗·蒂默尔斯来自爱丁堡大学，他说道，因为任一一个给定基因的影响很小，所以需要大量样本来确定与寿命相关的基因。

They confirmed six previously identified associations between genes and aging, such as the APOE gene, and they also discovered 21 new genomic regions that influence lifespan. Using their results to develop a polygenic risk score for lifespan, they developed a single, personalized genomic score that estimates a person's genetic likelihood of a longer life. 他们证实了先前已经确定的基因与年老之间存在的六个关联性，如APOE基因，他们还发现了21个影响生命周期的新的基因组区域。研究员利用研究结果开发了一个用于生命周期的多基因风险评分体系，这是一个单一的、个性化的基因组评分，可评估一个人长寿的遗传可能性。 "Using a person's genetic information alone, we can identify the 10 percent of people with the most protective genes, who will live an average of five years longer than the least protected 10 percent," said Timmers. "只需一个人的遗传信息，我们就可以确定出10%具有最多保护基因的人群。平均而言，他们比10%最不受保护的人群多活5年。" Also, they wanted to know whether genetic variants were affecting the aging process directly or affecting risk of individual diseases that could lead to death. They found that among common variants, those found in at least one in 200 people that are associated with Alzheimer's disease, heart disease, and smoking-related conditions were linked to overall lifespan. 此外，他们还想知道遗传变异是否会对衰老过程产生直接影响，亦或影响可能致死的个别疾病的风险。他们发现：在常见变异体中，与阿尔茨海默症、心脏病以及抽烟相关的0.5%的变异体会影响整体寿命。 However, they did not find lifespan associations for other cancers, suggesting that susceptibility to death caused by other cancers is due to rarer genetic variants or the environment. 然而，他们没有发现癌症与寿命相关，这表明：其它癌症引起的死亡可能是罕见的遗传变异或环境造成的。

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