[医学资讯]最新DNA工具可准确预测身高、教育程度及严重疾病风险

2018年10月4日,密歇根州立大学在《遗传学》(Genetics)上发布文章“New DNA tool predicts height, shows promise for serious illness assessment”,介绍其研究小组开发出的一款DNA工具。该工具可通过分析基因构成准确预测人们的身高、骨密度及教育程度等,可以用于评估人们患心脏病和癌症等严重疾病的风险。


A new DNA tool created by Michigan State University can accurately predict people’s height, and more importantly, could potentially assess their risk for serious illnesses, such as heart disease and cancer.

密歇根州立大学新开发的一款DNA工具可以准确预测身高,并能评估人们患严重疾病(如心脏病和癌症)的风险。

The research, featured in the October issue of Genetics, analyzed the complete genetic makeup of nearly 500,000 adults in the United Kingdom using machine learning.

这项研究发表在10月份的《遗传学》杂志上,利用机器学习分析了英国近500,000名成年人的完整基因组成。

For the first time, the tool, or algorithm, builds predictors for human traits such as height, bone density and even the level of education a person might achieve, purely based on one’s genome. But the applications may not stop there.

该工具(算法)第一次仅仅依靠个人基因组构建了人类特征的预测因子,如身高、骨密度甚至是可能达到的教育水平。当然,该工具还可以应用于其他地方。

“While we have validated this tool for these three outcomes, we can now apply this method to predict other complex traits related to health risks such as heart disease, diabetes and breast cancer,” said Stephen Hsu, lead investigator of the study and vice president for research and graduate studies at MSU.

密歇根州立大学副校长兼该研究的首席研究员Stephen Hsu表示,在身高、骨密度和教育水平三方面,研究人员已经验证了该DNA工具的有效性。现在该工具可用于预测与心脏病、糖尿病和乳腺癌等健康风险相关的其他复杂特征。

Further applications have the potential to dramatically advance the practice of precision health, which allows physicians to intervene as early as possible in patient care and prevent or delay illness.

该工具或将大幅推动精准健康工作,使医生能够尽早干预患者护理,预防或延缓疾病。

In validation tests, the computer accurately predicted everyone’s height within roughly an inch. While bone density and educational attainment predictors were not as precise, they were accurate enough to identify outlying individuals who were at risk of having very low bone density associated with osteoporosis or were at risk of struggling in school.

在验证测试中,计算机预测了每个人的身高,误差在一英寸以内。虽然骨密度和教育程度预测没有这么精确,但已足以判断可能导致骨质疏松症的低水平骨密度,或辨别出在学校中存在无法正常完成学业风险的人。

Traditional genetic testing typically looks for a specific change in a person’s genes or chromosomes that can indicate a higher risk for diseases such as breast cancer. Hsu’s model considers numerous genomic differences and builds a predictor based on the tens of thousands of variations.

传统的基因检测通常会寻找基因或染色体的特定变化,这些变化可能提示更高的乳腺癌等疾病的风险。密歇根州立大学的模型考虑了大量基因组差异,并根据数万个变异构建了一个预测工具。

Using data from the UK Biobank, Hsu and his team put the algorithm to work, evaluating each participant’s DNA and teaching the computer to pull out these distinct differences.

使用来自英国生物样本库的数据,Hsu和他的团队运用该算法评估每个参与者的DNA并教计算机消除这些明显的差异。

“The algorithm looks at the genetic makeup and height of each person,” Hsu said. “The computer learns from each person and ultimately produces a predictor that can determine how tall they are from their genome alone.”

Hsu称,该算法着眼于每个人的基因构成和身高。计算机获取每个人的信息,并最终产生一个预测工具,预测基因组决定的身高。

Hsu’s team will continue to improve the algorithms, while tapping into larger, more diverse data sets. Doing this would further validate the techniques and continue to help map out the genetic architecture of these important traits and disease risks.

Hsu的团队将继续改进算法,同时利用更大、更多样化的数据集,进一步验证该技术并继续帮助绘制出重要特征和疾病风险的基因结构。

With greater computing power and decreasing costs around DNA sequencing, what was once thought to be five to 10 years out, is now a lot closer when it comes to this type of work, Hsu added.

Hsu补充说,随着计算能力变强,DNA测序成本降低,曾经被认为需要5到10年才能实现的目标,现在已经不需要那么久了。

“Our team believes this is the future of medicine,” he said. “For the patient, a genomic test can be as simple as a cheek swab, with a cost of about $50. Once we calculate the predictors for genetically based diseases, early intervention can save billions of dollars in treatment costs, and more importantly, save lives.”

Hsu认为,这项技术是医学的未来。对于患者来说,基因组测试可以像用棉签取口腔拭子一样简单,成本只有约为50美元。一旦计算出基因疾病的预测因子,早期干预可以节省数十亿美元的治疗费用。最重要的是,这项技术可以挽救生命。”

英文文章来源:Newswise网站

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