以色列希伯来大学Shai Carmi和美国Zucker Hillside医院Todd Lencz团队合作发现,筛查人类胚胎多基因性状的用途是有限的。该项研究成果在线发表在11月21日的《细胞》上。
研究人员利用理论、模拟和真实数据来评估胚胎筛选的潜在优势,该评估的参数为得分最高的胚胎与处于平均值胚胎之间的特征值之差。筛查优势受胚胎数量的影响很小,主要随分数的变化而变化。
在目前的技术条件下,通过筛选获得的平均增益对于身高来说约为2.5 cm,对于认知能力来说约为2.5倍的IQ值。这些平均值有较大的预测间隔,实际上,在较大的家庭中,大多数预测身高最高的孩子实际上并不是最高的。
据悉,多基因评价以及着床前遗传学诊断手段的进展表明人类复杂性状变异的比例不断增加,这表明有可能利用筛查胚胎来观察身高或认知等特征。但是,由于伦理问题,胚胎筛查的预期结果尚不清楚。
附:英文原文
Title: Screening Human Embryos for Polygenic Traits Has Limited Utility
Author: Ehud Karavani, Or Zuk, Danny Zeevi, Nir Barzilai, Nikos C. Stefanis, Alex Hatzimanolis, Nikolaos Smyrnis, Dimitrios Avramopoulos, Leonid Kruglyak, Gil Atzmon, Max Lam, Todd Lencz, Shai Carmi
Issue&Volume: November 21, 2019
Abstract: The increasing proportion of variance in human complex traits explained by polygenicscores, along with progress in preimplantation genetic diagnosis, suggests the possibilityof screening embryos for traits such as height or cognitive ability. However, theexpected outcomes of embryo screening are unclear, which undermines discussion ofassociated ethical concerns. Here, we use theory, simulations, and real data to evaluatethe potential gain of embryo screening, defined as the difference in trait value betweenthe top-scoring embryo and the average embryo. The gain increases very slowly withthe number of embryos but more rapidly with the variance explained by the score. Givencurrent technology, the average gain due to screening would be ≈2.5 cm for heightand ≈2.5 IQ points for cognitive ability. These mean values are accompanied by wideprediction intervals, and indeed, in large nuclear families, the majority of childrentop-scoring for height are not the tallest.
DOI: 10.1016/j.cell.2019.10.033
Source: https://www.cell.com/cell/fulltext/S0092-8674(19)31210-3
