Resende Rafael Tassinari, Resende Marcos Deon Vilela, Silva Fabyano Fonseca, Azevedo Camila Ferreira, Takahashi Elizabete Keiko, Silva-Junior Orzenil Bonfim, Grattapaglia Dario
Department of Statistics, Universidade Federal de Viçosa, Viçosa, MG, 36570-000, Brazil.
EMBRAPA Forestry Research, Colombo, PR, 83411-000, Brazil.
New Phytol. 2017 Feb;213(3):1287-1300. doi: 10.1111/nph.14266. Epub 2016 Nov 7.
Although genome-wide association studies (GWAS) have provided valuable insights into the decoding of the relationships between sequence variation and complex phenotypes, they have explained little heritability. Regional heritability mapping (RHM) provides heritability estimates for genomic segments containing both common and rare allelic effects that individually contribute too little variance to be detected by GWAS. We carried out GWAS and RHM for seven growth, wood and disease resistance traits in a breeding population of 768 Eucalyptus hybrid trees using EuCHIP60K. Total genomic heritabilities accounted for large proportions (64-89%) of pedigree-based trait heritabilities, providing additional evidence that complex traits in eucalypts are controlled by many sequence variants across the frequency spectrum, each with small contributions to the phenotypic variance. RHM detected 26 quantitative trait loci (QTLs) encompassing 2191 single nucleotide polymorphisms (SNPs), whereas GWAS detected 13 single SNP-trait associations. RHM and GWAS QTLs individually explained 5-15% and 4-6% of the genomic heritability, respectively. RHM was superior to GWAS in capturing larger proportions of genomic heritability. Equated to previously mapped QTLs, our results highlighted genomic regions for further examination towards gene discovery. RHM-QTLs bearing a combination of common and rare variants could be useful enhancements to incorporate prior knowledge of the underlying genetic architecture in genomic prediction models.
尽管全基因组关联研究(GWAS)为解读序列变异与复杂表型之间的关系提供了有价值的见解,但它们对遗传力的解释却很少。区域遗传力图谱(RHM)为包含常见和罕见等位基因效应的基因组片段提供遗传力估计,这些效应单独对变异的贡献太小,无法通过GWAS检测到。我们使用EuCHIP60K对768棵桉树杂交树的育种群体中的七个生长、木材和抗病性状进行了GWAS和RHM。总的基因组遗传力占基于系谱的性状遗传力的很大比例(64 - 89%),这进一步证明了桉树的复杂性状受频率谱上许多序列变异的控制,每个变异对表型变异的贡献都很小。RHM检测到26个数量性状位点(QTL),包含2191个单核苷酸多态性(SNP),而GWAS检测到13个单SNP - 性状关联。RHM和GWAS的QTL分别解释了基因组遗传力的5 - 15%和4 - 6%。在捕获更大比例的基因组遗传力方面,RHM优于GWAS。与先前定位的QTL等同,我们的结果突出了用于进一步基因发现研究的基因组区域。携带常见和罕见变异组合的RHM - QTL可能是在基因组预测模型中纳入潜在遗传结构先验知识的有用增强。