遺傳研究揭秘人類的潛在壽命

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，在圣地亞哥舉行的2018年美國人類遺傳學(xué)會年會上，一項研究報道了一種方法，可評估個體活得比平均壽命更長或更短。

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.

國際研究小組研究了遺傳變異對整個人類基因組壽命的影響，或能提高我們對老年疾病以及與年老相關(guān)的細胞通路的認知。

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.

在這項有史以來規(guī)模最大的全基因組與壽命的關(guān)聯(lián)研究中，研究員將來自英國生物銀行和其它來源的50多萬名參與者的遺傳數(shù)據(jù)與每位參與者父母的壽命數(shù)據(jù)進行配對。

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.

他們沒有研究一個或多個選定基因?qū)勖挠绊懀怯^察了整個基因組，以一種更為開放的方式回答了這個問題。該論文的第一作者保羅·蒂默爾斯來自愛丁堡大學(xué)，他說道，因為任一一個給定基因的影響很小，所以需要大量樣本來確定與壽命相關(guān)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.

他們證實了先前已經(jīng)確定的基因與年老之間存在的六個關(guān)聯(lián)性，如APOE基因，他們還發(fā)現(xiàn)了21個影響生命周期的新的基因組區(qū)域。研究員利用研究結(jié)果開發(fā)了一個用于生命周期的多基因風險評分體系，這是一個單一的、個性化的基因組評分，可評估一個人長壽的遺傳可能性。

"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.

"只需一個人的遺傳信息，我們就可以確定出10%具有最多保護基因的人群。平均而言，他們比10%最不受保護的人群多活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，他們還想知道遺傳變異是否會對衰老過程產(chǎn)生直接影響，亦或影響可能致死的個別疾病的風險。他們發(fā)現(xiàn)：在常見變異體中，與阿爾茨海默癥、心臟病以及抽煙相關(guān)的0.5%的變異體會影響整體壽命。

However, they did not find lifespan associations for other cancers, suggesting thatsusceptibility to death caused by other cancers is due to rarer genetic variants or the environment.

然而，他們沒有發(fā)現(xiàn)癌癥與壽命相關(guān)，這表明：其它癌癥引起的死亡可能是罕見的遺傳變異或環(huán)境造成的。