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(guó)人類遺傳學(xué)會(huì)年會(huì)上，一項(xiàng)研究報(bào)道了一種方法，可評(píng)估個(gè)體活得比平均壽命更長(zhǎng)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(guó)際研究小組研究了遺傳變異對(duì)整個(gè)人類基因組壽命的影響，或能提高我們對(duì)老年疾病以及與年老相關(guān)的細(xì)胞通路的認(rèn)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(xiàng)有史以來(lái)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(lái)自英國(guó)生物銀行和其它來(lái)源的50多萬(wàn)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(jìn)行配對(duì)。

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(méi)有研究一個(gè)或多個(gè)選定基因?qū)勖挠绊?，而是觀察了整個(gè)基因組，以一種更為開放的方式回答了這個(gè)問(wèn)題。該論文的第一作者保羅·蒂默爾斯來(lái)自愛(ài)丁堡大學(xué)，他說(shuō)道，因?yàn)槿我灰粋€(gè)給定基因的影響很小，所以需要大量樣本來(lái)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(shí)了先前已經(jīng)確定的基因與年老之間存在的六個(gè)關(guān)聯(lián)性，如APOE基因，他們還發(fā)現(xiàn)了21個(gè)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(gè)用于生命周期的多基因風(fēng)險(xiǎn)評(píng)分體系，這是一個(gè)單一的、個(gè)性化的基因組評(píng)分，可評(píng)估一個(gè)人長(zhǎng)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(gè)人的遺傳信息，我們就可以確定出10%具有最多保護(hù)基因的人群。平均而言，他們比10%最不受保護(hù)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(huì)對(duì)衰老過(guò)程產(chǎn)生直接影響，亦或影響可能致死的個(gè)別疾病的風(fēng)險(xiǎn)。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(huì)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(méi)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。