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引用次数: 0
摘要
研究自然界复杂性状的进化需要准确评估其遗传基础。定量遗传(QG)建模经常被用来估算性状的加性遗传变异(VA),结合来自个体样本的表型和血统数据。无论是根据社会联系还是分子标记重建的经验血统,其完整性、系谱错误率和其他属性都会对 QG 估算产生影响。在此,我们使用六个法裔加拿大人(FC)种群的人类家谱数据来研究这种影响,这些种群源自相同的遗传创始源,但其家谱属性却各不相同。首先,我们模拟了不同性状结构和 "真实 "参数值(如 VA)下的血统表型值。然后,我们将混合效应 "动物 "模型拟合到这些模拟数据中,以评估 QG 估计如何受到血统属性的影响。我们的结果表明,血统大小和深度是遗传参数估计精确度的重要决定因素,但不是准确度的重要决定因素。相比之下,与系谱联系密度相关的两个属性--血统完整性和熵,与参数估计的性能并无明显关联。值得注意的是,系谱错误率的轻微增加足以导致可检测到的 VA 低估。在模拟中加入母系遗传效应,会导致血统规模和深度较小的 VA 被略微低估。尽管基因来源相同,但在相同条件下,六个血统的 QG 估计值差异很大。这些发现凸显了在对自然种群进行基于血统的遗传研究时进行敏感性分析的重要性。
Assessing the impact of pedigree attributes on the validity of quantitative genetic parameter estimates.
Investigating the evolution of complex traits in nature requires accurate assessment of their genetic basis. Quantitative genetic (QG) modeling is frequently applied to estimate the additive genetic variance (VA) in traits, combining phenotypic and pedigree data from a sample of individuals. Whether reconstructed from social links or molecular markers, empirical pedigrees differ in completeness, genealogical error rates and other attributes that can impact QG estimation. Here we investigate this impact using human genealogical data for six French-Canadian (FC) populations originating from the same genetic founding source but differing in their pedigrees' attributes. First, we simulated phenotypic values along pedigrees and under different trait architecture and 'true' parameter values (e.g. VA). Then we fitted mixed effects 'animal' models to these simulated data, to assess how QG estimation was impacted by pedigree attributes. Our results show that pedigree size and depth were important determinants of the precision, but not accuracy, of genetic parameter estimates. In contrast, pedigree completeness and entropy, two attributes related to the density of genealogical links, were not clearly associated with the performance of parameter estimation. Noticeably, a slight increase in the genealogical error rate was sufficient to cause a detectable underestimation of VA. Including maternal genetic effects into the simulations lead to a slight underestimation of VA with pedigrees of smaller size and depth. Despite originating from the same genetic source, the six pedigrees yielded wide variations in QG estimates under identical conditions. These findings highlight the importance of sensitivity analyses in pedigree-based genetic studies on natural populations.
期刊介绍:
It covers both micro- and macro-evolution of all types of organisms. The aim of the Journal is to integrate perspectives across molecular and microbial evolution, behaviour, genetics, ecology, life histories, development, palaeontology, systematics and morphology.