我们并非进化完成品:新研究揭示人类仍在被快速“雕刻”,这对未来意味着什么?
长期以来,科学界认为,自农业文明以来,强自然选择在人类身上已很罕见,除了乳糖耐受等少数特例外,我们基本是“进化完成品”。但一项发表于《自然》的研究,通过创新性地将时间变量纳入古代DNA分析,发现了令人震惊的事实:在最近一万年,数百个人类基因位点经历了强烈的自然选择,许多选择压力是短暂且可逆的。这意味着,我们的祖先直至很近的过去,仍在被饥荒、疾病、气候变化等环境压力快速塑造。这一发现不仅改写了教科书,更迫使我们重新思考:在环境剧变的今天,选择压力是什么?我们基于当下“最优”基因做出的医疗和生育决策,是否在为未来埋下隐患?
核心观点:《自然》最新研究通过纵向时间分析方法,发现过去一万年间人类经历了数百个基因位点的强选择,彻底颠覆了“近期人类进化基本停滞”的旧共识。这不仅重写了我们对自身生物历史的认知,更对基于当前基因的医疗、胚胎选择乃至我们理解“人性”与环境的动态关系,投下了一颗深水炸弹,警示我们:人类的基因蓝图并非静态图纸,而是一份始终在与环境谈判的、充满擦痕的草稿。
一项发表在《自然》杂志上的研究,像一块投入平静湖面的巨石,在人类自我认知的深水区激起了巨浪。由大卫·赖希(David Reich)和阿里·阿克巴里(Ali Akbari)等科学家领导的研究团队,通过对古代DNA进行前所未有的纵向时间序列分析,得出了一个颠覆性的结论:在过去的1万年里——这个我们通常认为文明已缓冲了自然选择力的时期——人类基因组经历了广泛而强烈的自然选择,涉及数百个基因位点,选择系数中位数高达约0.86%。这意味着,每代人的等位基因频率会朝着特定方向变化约1%。相比之下,此前最好的研究仅能发现最多20个这样的位点。20倍的数量差距,这不是细微修正,而是范式的转换。它宣告了“人类近期进化基本停滞”这一长期共识的破产。我们并非进化完成品,我们的基因直到非常近的过去,仍在被环境之手快速而精细地雕刻。
这项研究的关键突破在于方法论的转变。以往的研究多是“横截面”式的,比较不同人群间的基因频率差异,并主要用种群结构(如迁徙、遗传漂变)来解释。而新研究采用了“纵向”视角,将古代个体生活的具体时间明确作为变量纳入模型。这就像从观察一张静态的集体照片,转变为观看一部连续的快进电影。一旦时间线清晰,那些曾被忽略的、短暂而强烈的选择信号便浮现出来。研究发现,许多选择并非作用于全新变异导致“席卷式”进化,而是作用于早已存在的变异,由短暂的环境压力驱动,且常常发生“逆转”。一个典型例子是TYK2基因的一个等位基因,它在数千年里因能增强免疫力、抵御结核病而被正向选择;但随着结核病流行程度下降,其导致自身免疫性疾病的代价凸显,该等位基因又被“净化”选择所淘汰。这种“按下葫芦浮起瓢”的动态图景,揭示了进化是一场永不停息的、权衡利弊的博弈,而非一劳永逸的优化。
这一发现首先重塑了我们的历史观。它暗示,农业革命、城市兴起、人口密度变化、历次大瘟疫、气候变化乃至社会结构的变迁,都在我们的基因组上留下了清晰的烙印。我们的身体,是我们祖先应对特定环境挑战的“活化石”。那些帮助我们消化新食物、抵抗新病原体、适应新气候或社会压力的基因变异,在过去一万年里被反复筛选和调整。这打破了将生物学进化与文化进化截然分开的迷思,表明两者始终在紧密交织、相互影响。我们不只是用文化适应环境,我们的身体也在同步进行着深刻的生物学调适,只是其速度之快和范围之广,超出了我们之前的观测能力。
然而,这项研究的震撼力更在于它对未来的映照与警示。它首先对现代医学,尤其是药物研发和基因关联研究,提出了一个根本性的质询。当前,基于全基因组关联分析(GWAS)寻找疾病靶点或理解基因-性状关联,主要依赖对当代人群的静态观察。但新研究提醒我们,一个基因变异的有益或有害效应,可能是高度环境依赖的。在一种环境下被选择的“好”基因,在环境剧变后可能变成“坏”基因。这意味着,当我们基于今天的“常态”环境(一个充斥着加工食品、久坐生活、抗生素和特定社会压力的工业化世界)来定义基因的“风险”与“收益”时,我们必须极度谨慎。我们看到的可能只是漫长进化剧中的一帧定格画面,而非全剧。未来环境一旦变化(无论是自然变化还是人类自身活动导致),当前“最优”的基因型可能会带来意想不到的代价。
最令人不安的启示,或许关乎正在兴起的胚胎基因选择(基于多基因评分)。这项技术允许父母根据当前对“理想性状”(如高认知能力、低疾病风险、特定身高)的理解,筛选胚胎。新研究的动态进化观为此敲响了震耳欲聋的警钟:人类正在依据对当下环境的狭隘理解,做出永久性、可遗传的生育决定。然而,古代DNA记录清晰地表明,基因的成本效益景观会随着时间翻转。今天被我们视为“优质”的多基因组合,在未来不可预测的环境下,可能会成为负担。例如,一组被选择用于在营养稀缺环境中高效储存脂肪的基因,在食物过剩的今天已成为肥胖和代谢疾病的风险因素。如果我们今天选择了一组在当代社会“最优”的认知或行为相关基因,谁能保证它们在未来五十年、一百年变化的社会与技术环境中,不会表现出未曾预见的负面效应?我们正在用静态的尺子,去丈量动态的河流,并试图根据此刻的测量结果,去塑造未来航船的形状。这无疑是一场巨大的进化赌博。
这项研究也迫使我们重新思考“人性”与环境的共生关系。如果我们的基因在过去一万年仍在快速适应,那么所谓“人类本性”中那些我们认为永恒的部分,可能比想象中更具可塑性,也更依赖于特定的生态和历史背景。这既带来了希望——我们或许比想象中更能适应未来的挑战(包括气候变化等);也带来了忧虑——当前人类活动导致的环境变化速度,可能远远超过了基因进化能够跟上的步伐,造成所谓的“进化失配”,即我们的旧基因无法适应新环境,从而引发大量的现代疾病。
最后,需要指出的是,当前研究主要基于欧洲人群的古代DNA。当分析扩展到南亚、东亚、非洲等更多样化的人群时,很可能会揭示出更复杂、更惊人的进化故事,进一步丰富我们对人类这一物种适应性的理解。无论如何,这项研究已经划下了一条清晰的分界线。它告诉我们,人类进化从未冻结,我们始终是“进行时”。面对这个动态的、充满擦痕的自我基因草稿,我们在运用日益强大的基因技术时,需要注入前所未有的谦卑、远见和生态整体性思维。我们不仅是在干预个体的生命,更是在插手一个绵延万年的、与环境持续对话的进化进程。这份责任,远比我们之前想象的要沉重得多。
参考来源
- RT by @paulg: A new paper in @Nature from David Reich, @aliakbari23 and colleagues breaks the conventional understanding of recent human evolution. The field believed that strong selection in the recent past (~10,000 years) was rare, with few exceptions like the lactase persistence locus. In this paper, the authors challenge that belief, showing that we weren't looking at the problem right.
- Previous studies that looked for evidence of selection using ancient DNA addressed the problem cross-sectionally, asking if allele frequencies differed across populations more than what one would expect based on genetic drift and migration. Most arrived at the conclusion that population structure primarily explained the observed differences. Here, the authors addressed the problem longitudinally, accounting for when ancient individuals lived by explicitly modeling time as a variable in the analysis. It turns out doing it this way dramatically increases power, increasing the number of genome-wide significant selection signals by 20-fold!
- Looking at why accounting for the time variable led to such dramatic changes in results, the authors find that previous studies missed so much because selection often happened not on new variants leading to dramatic sweeps (the conventional model: new variant -> selection -> increase in frequency) but on already existing variants driven by transient environmental pressures. Many of these variants underwent reversals, selected up when a pressure existed, then purged when it disappeared or the trade-off cost became dominant. A great example is the TYK2 variant, where an allele boosting immunity was selected for thousands of years because it protected against TB, then got purged as TB endemicity declined and the autoimmune cost took over.
- The scale of what they found is striking: hundreds of loci showing strong selection in the past 10,000 years with a median selection coefficient of ~0.86%. This number is pretty big in evolutionary terms, meaning allele frequencies have been shifting by ~1% per generation in a consistent direction. Previous selection scans found a maximum of 20 loci, and this one finds hundreds. That isn't an incremental change. It fundamentally reframes our understanding of how common strong selection has been in recent human history.
- Some of the most striking findings come from polygenic selection, where hundreds of small-effect alleles were pushed in the same direction simultaneously. Polygenic scores based on large-scale GWAS of today predict recent negative selection for traits like body fat, waist circumference and schizophrenia, and positive selection for others like cognitive traits. One important caveat is that GWAS phenotypes are measured in industrialized societies today, and how well they capture what was actually being selected in ancient environments is debatable.
- For me personally, these findings have direct implications for drug discovery. When using human genetics to find drug targets, we often fixate on the benefit and risk profiles of variants visible today. But we need to be aware that a variant's benefit:harm ratio might be environmentally contingent, and could reverse when the wrong environment manifests. An evolutionary understanding of a variant's association with traits is therefore essential.
- The same logic applies, perhaps even more urgently, to embryo selection. Selecting embryos based on polygenic traits is humans making permanent, heritable decisions for their offspring with a narrow view of today's environment. The ancient DNA record now shows that cost-benefit landscapes flip over time. So, an embryo carrying man-made selections is carrying those changes into an unpredictable future environment.
- The broader takeaway is that human evolution didn't freeze in the last 10,000 years. We just lacked the tools and datasets to see its movement. The current findings are based on European populations. I am curious to see these analyses extended to other populations too, like South Asian, East Asian and African populations, which might be holding more surprises to blow our minds.
- Akbari et al. Nature 2026
- https://www.nature.com/articles/s41586-026-10358-1 - https://nitter.net/doctorveera/status/2044679999450664967#m
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