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利用真实或推算的全基因组标记预测牛模拟多基因表型及其潜在数量性状位点基因型的准确性。

Accuracy of prediction of simulated polygenic phenotypes and their underlying quantitative trait loci genotypes using real or imputed whole-genome markers in cattle.

作者信息

Hassani Saeed, Saatchi Mahdi, Fernando Rohan L, Garrick Dorian J

机构信息

Department of Animal and Poultry Breeding and Genetics, Gorgan University of Agricultural Sciences and Natural Resources, Gorgan, Iran.

Department of Animal Science, Iowa State University, Ames, 50011, USA.

出版信息

Genet Sel Evol. 2015 Dec 23;47:99. doi: 10.1186/s12711-015-0179-4.

Abstract

BACKGROUND

More accurate genomic predictions are expected when the effects of QTL (quantitative trait loci) are predicted from markers in close physical proximity to the QTL. The objective of this study was to quantify to what extent whole-genome methods using 50 K or imputed 770 K SNPs (single nucleotide polymorphisms) could predict single or multiple QTL genotypes based on SNPs in close proximity to those QTL.

METHODS

Phenotypes with a heritability of 1 were simulated for 2677 Hereford animals genotyped with the BovineSNP50 BeadChip. Genotypes for the high-density 770 K SNP panel were imputed using Beagle software. Various Bayesian regression methods were used to predict single QTL or a trait influenced by 42 such QTL. We quantified to what extent these predictions were based on SNPs in close proximity to the QTL by comparing whole-genome predictions to local predictions based on estimates of the effects of variable numbers of SNPs i.e. ±1, ±2, ±5, ±10, ±50 or ±100 that flanked the QTL.

RESULTS

Prediction accuracies based on local SNPs using whole-genome training for single QTL with the 50 K SNP panel and BayesC0 ranged from 0.49 (±1 SNP) to 0.75 (±100 SNPs). The minimum number of local SNPs for an accurate prediction is ±10 SNPs. Prediction accuracies that were based on local SNPs only were higher than those based on whole-genome SNPs for both 50 K and 770 K SNP panels. For the 770 K SNP panel, prediction accuracies were higher than 0.70 and varied little i.e. between 0.73 (±1 SNP) and 0.77 (±5 SNPs). For the summed 42 QTL, prediction accuracies were generally higher than for single QTL regardless of the number of local SNPs. For QTL with low minor allele frequency (MAF) compared to QTL with high MAF, prediction accuracies increased as the number of SNPs around the QTL increased.

CONCLUSIONS

These results suggest that with both 50 K and imputed 770 K SNP genotypes the level of linkage disequilibrium is sufficient to predict single and multiple QTL. However, prediction accuracies are eroded through spuriously estimated effects of SNPs that are distant from the QTL. Prediction accuracies were higher with the 770 K than with the 50 K SNP panel.

摘要

背景

当从与数量性状基因座(QTL)物理距离相近的标记预测QTL的效应时,有望得到更准确的基因组预测。本研究的目的是量化使用50K或推算的770K单核苷酸多态性(SNP)的全基因组方法基于与这些QTL物理距离相近的SNP预测单个或多个QTL基因型的程度。

方法

对2677头用牛50K SNP芯片进行基因分型的海福特牛模拟遗传力为1的表型。使用Beagle软件推算高密度770K SNP面板的基因型。采用各种贝叶斯回归方法预测单个QTL或受42个此类QTL影响的性状。通过将全基因组预测与基于QTL侧翼不同数量SNP(即±1、±2、±5、±10、±50或±100)效应估计的局部预测进行比较,我们量化了这些预测基于与QTL物理距离相近的SNP的程度。

结果

使用50K SNP面板和BayesC0进行全基因组训练,基于局部SNP对单个QTL的预测准确性范围为0.49(±1个SNP)至0.75(±100个SNP)。准确预测所需的局部SNP的最小数量为±10个SNP。对于50K和770K SNP面板,仅基于局部SNP的预测准确性高于基于全基因组SNP的预测准确性。对于770K SNP面板,预测准确性高于0.70,且变化不大(在0.73(±1个SNP)至0.77(±5个SNP)之间)。对于42个QTL的总和,无论局部SNP的数量如何,预测准确性通常高于单个QTL。与高最小等位基因频率(MAF)的QTL相比,低MAF的QTL的预测准确性随着QTL周围SNP数量的增加而提高。

结论

这些结果表明,对于50K和推算的770K SNP基因型,连锁不平衡水平足以预测单个和多个QTL。然而,预测准确性会因远离QTL的SNP的虚假估计效应而降低。770K SNP面板的预测准确性高于50K SNP面板。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90cb/4689055/9872f932ee12/12711_2015_179_Fig1_HTML.jpg

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