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用于计算群体间遗传相关性无偏估计的标记所需的属性。

Required properties for markers used to calculate unbiased estimates of the genetic correlation between populations.

机构信息

Animal Breeding and Genomics, Wageningen University and Research, 6700 AH, Wageningen, The Netherlands.

出版信息

Genet Sel Evol. 2018 Dec 14;50(1):65. doi: 10.1186/s12711-018-0434-6.

Abstract

BACKGROUND

Generally, populations differ in terms of environmental and genetic factors, which can create differences in allele substitution effects between populations. Therefore, a single genotype may have different additive genetic values in different populations. The correlation between the two additive genetic values of a single genotype in two populations is known as the additive genetic correlation between populations and thus, can differ from 1. Our objective was to investigate whether differences in linkage disequilibrium (LD) and allele frequencies of markers and causal loci between populations affect the bias of the estimated genetic correlation. We simulated two populations that were separated by 50 generations and differed in LD pattern between markers and causal loci, as measured by the LD-statistic r. We used a high marker density to represent a high consistency of LD between populations, and lower marker densities to represent situations with a lower consistency of LD between populations. Markers and causal loci were selected to have either similar or different allele frequencies in the two populations.

RESULTS

Our results show that genetic correlations were underestimated only slightly when the difference in allele frequencies between the two populations was similar for the markers and the causal loci. A lower marker density, representing a lower consistency of LD between populations, had only a minor effect on the underestimation of the genetic correlation. When the difference in allele frequencies between the two populations was not similar for markers and causal loci, genetic correlations were severely underestimated. This bias occurred because the markers did not predict accurately the relationships at causal loci.

CONCLUSIONS

For an unbiased estimation of the genetic correlation between populations, the markers should accurately predict the relationships at the causal loci. To achieve this, it is essential that the difference in allele frequencies between populations is similar for markers and causal loci. Our results show that differences in LD phase between causal loci and markers across populations have little effect on the estimated genetic correlation.

摘要

背景

一般来说,人群在环境和遗传因素方面存在差异,这可能导致不同人群之间等位基因替代效应的差异。因此,单一基因型在不同人群中可能具有不同的加性遗传值。两个种群中单一位点基因型的两个加性遗传值之间的相关性称为种群间的加性遗传相关性,因此可能不等于 1。我们的目的是研究种群间标记和因果位点的连锁不平衡(LD)和等位基因频率差异是否会影响估计遗传相关性的偏差。我们模拟了两个经过 50 代分离的种群,标记和因果位点之间的 LD 模式不同,用 LD 统计量 r 来衡量。我们使用高密度标记来表示种群间 LD 的高度一致性,使用低密度标记来表示种群间 LD 的一致性较低。标记和因果位点被选择为在两个种群中具有相似或不同的等位基因频率。

结果

我们的结果表明,当两个种群中标记和因果位点的等位基因频率差异相似时,遗传相关性仅略有低估。标记密度较低,代表种群间 LD 的一致性较低,对遗传相关性的低估影响较小。当两个种群中标记和因果位点的等位基因频率差异不相似时,遗传相关性严重低估。这种偏差是由于标记不能准确预测因果位点的关系所致。

结论

为了对种群间遗传相关性进行无偏估计,标记应准确预测因果位点的关系。为了实现这一点,标记和因果位点之间的等位基因频率差异必须相似。我们的结果表明,因果位点与标记之间的 LD 相位差异对估计的遗传相关性影响不大。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1057/6295113/2edce0da04c4/12711_2018_434_Fig1_HTML.jpg

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