希尔数综合并推广了性状多基因性的度量

中文摘要 AI 辅助

表征表型变异的遗传结构是人类遗传学的核心，但性状多基因性——即样本中导致可遗传性状变异的遗传变异的多样性——很少被正式量化。O'Connor和Sella（2026年）通过提出四种多基因性度量解决了这一需求，这些度量是拟算术均值，因此满足他们认为对多基因性度量而言理想的一组原则。本文表明，这四种度量是对应于希尔数（Hill numbers，一类生态多样性统计量）的连续体上的点，希尔数可对贡献小与贡献大的变异提供可调的侧重。本文进一步表明，希尔数是唯一适合测量多基因性的拟算术均值，因为它们是唯一的变异“有效数”。与希尔数的关联阐明了O'Connor和Sella的四种多基因性度量之间的关系：所有四种都是变异的有效数，且那些对贡献小的变异赋予更大权重的度量会产生更高的多基因性估计值。这还将多基因性与生态多样性文献中的结果联系起来，包括复制原则（即当组合独立的变异集时，此类度量应遵循的行为准则）。总体而言，这些结果为解释、比较和选择性状多基因性的度量提供了统一框架。

英文摘要

Characterizing the genetic architecture of phenotypic variation is central to human genetics, yet trait polygenicity---the diversity of genetic variants responsible for a heritable trait's variation in a sample---is rarely quantified formally. O'Connor and Sella (2026) addressed this need by proposing four polygenicity measures that are quasi-arithmetic means and therefore satisfy a set of principles they argue are desirable for polygenicity measures. Here, I show that these four measures are points on a continuum corresponding to the Hill numbers, a family of ecological diversity statistics offering a tunable emphasis on variants with small versus large contributions. I further show that the Hill numbers are the only quasi-arithmetic means suitable for measuring polygenicity because they are the only ones that are "effective numbers" of variants. The connection to the Hill numbers clarifies the relationships among O'Connor and Sella's four polygenicity measures: all four are effective numbers of variants, and those that give greater weight to variants with small contributions yield higher estimates of polygenicity. It also connects polygenicity to results in the ecological diversity literature, including the replication principle, a criterion for how such measures should behave when independent sets of variants are combined. Together, these results offer a unified framework for interpreting, comparing, and selecting measures of trait polygenicity.

发表机构

• Santa Fe Institute（圣塔菲研究所）

机构由 AI 辅助整理，请以论文原文为准。

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7 pages, 1 figure