美国近10万人药物基因研究发现数千个新变异：16个药物基因人人至少携带1个，四分之一人用过受影响药物
华盛顿报道 — 一项使用美国国立卫生研究院「我们所有人」（All of Us）研究计划数据的新研究，在近10万名美国人中发现了数千个此前未记录的基因变异，这些变异位于影响人体对处方药反应的基因中。研究11月11日发表于《科学·转化医学》（Science Translational Medicine）。
据报道，研究者考察了16个药物基因（pharmacogenes），发现每一名参与者都至少携带其中1个变异，且四分之一的参与者曾服用过可能受这些变异影响的药物。报道称，这类变异可改变人对药物的代谢方式，使所需剂量更高或更低、产生更重或新的副作用，在个别情况下使药物完全无效；受涉及的药物包括选择性血清素再摄取抑制剂、他汀类、化疗药物与血液稀释剂氯吡格雷（Plavix）等。
论文资深作者、匹兹堡大学临床药学科学中心主任菲利普·恩佩（Philip Empey）表示，若有人曾有药物无效或出现副作用的经历，不能断言一定源于遗传，但人们越来越认识到个体差异的存在，遗传是可能提示差异来源的因素之一。未参与该研究的卫生政策研究者洛伦·索尔斯贝里（Loren Saulsberry）表示，这项研究推进了基因指导临床照护在多样人群中有益的证据。
报道同时交代背景：All of Us 计划目标为收集100万名背景多样的美国人的遗传数据；该计划的资金来自2016年通过的《21世纪治愈法案》与国会年度拨款两路，前一路将在2027财年枯竭。计划前首席执行官约书亚·丹尼（Joshua Denny）表示，资金削减已使该计划收缩招募。该研究只报道研究发现，不构成对任何个体的用药建议。
Study of Nearly 100,000 Americans Finds Thousands of New Drug-Gene Variants: At Least One Variant in 16 Pharmacogenes in Every Participant, One in Four Had Taken an Affected Medicine
WASHINGTON — A new study using data from the National Institutes of Health's All of Us Research Program has identified thousands of previously unrecorded variants in genes that influence how people respond to prescription drugs, in a study of nearly 100,000 Americans. The paper was published on November 11 in Science Translational Medicine.
Using All of Us data, the researchers found that every participant carried at least one variant in the 16 pharmacogenes studied, and that one in four participants had taken a medication that could be affected by these variants. Pharmacogenes can change the way people metabolize drugs so that they need higher or lower doses, face worse or new side effects, or in some cases find drugs entirely ineffective. The variants affect drugs including selective serotonin reuptake inhibitors, statins, chemotherapy and the blood thinner Plavix, among others.
Philip Empey, who directs the Center for Clinical Pharmaceutical Sciences at the University of Pittsburgh and was the senior author on the paper, said that a prior experience with a medicine that did not work or caused a side effect cannot be attributed with certainty to genetics, but that genetics is one reason that may suggest where differences arise. Loren Saulsberry, a health policy researcher who was not involved in the study, said it furthers the evidence of how genetically guided clinical care adds benefit across a diverse population.
The All of Us Research Program aims to collect genetic data from 1 million Americans from diverse backgrounds. The program is supported by the 21st Century Cures Act, enacted in 2016, and yearly congressional appropriations; the former avenue will dry up in fiscal year 2027, and former program CEO Joshua Denny said funding cuts have forced the program to scale back recruiting. The study reports research findings only and is not medication advice for any individual.
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图片来源：图：DNA双螺旋结构示意图（资料图）。National Human Genome Research Institute，Public domain，经Wikimedia Commons。 / Photo: DNA double helix illustration (file image). National Human Genome Research Institute, Public domain, via Wikimedia Commons.
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