A novel genome-wide association study method for detecting quantitative trait loci interacting with complex population structures in plant genetics.

IF 3.3 3区 生物学 Q2 GENETICS & HEREDITY
Genetics Pub Date : 2025-04-17 DOI:10.1093/genetics/iyaf038
Kosuke Hamazaki, Hiroyoshi Iwata, Tristan Mary-Huard
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引用次数: 0

Abstract

In plant genetics, most modern association analyses are performed on panels that bring together individuals from several populations, including admixed individuals whose genomes comprise chromosomal regions from different populations. These panels can identify quantitative trait loci (QTLs) with population-specific effects and epistatic interactions between QTLs and polygenic backgrounds. However, analyzing a diverse panel constitutes a challenge for statistical analysis. The statistical model must account for possible interactions between a QTL and the panel structure while strictly controlling the detection error rate. Although models to detect population-specific QTLs have already been developed, they rely on prior information about the population structure. In practice, this prior information may be missing as many genome-wide association study (GWAS) panels exhibit complex population structures. The present study introduces 2 new models for detecting QTLs interacting with complex population structures. Both incorporate an interaction term between single nucleotide polymorphism/haplotype block and genetic background into conventional GWAS models. The proposed models were compared with state-of-the-art models through simulation studies that considered QTLs with different levels of interaction with their genetic backgrounds. Results showed that models matching simulation settings were most effective for detecting corresponding QTLs while the proposed models outperformed classical models in detecting QTLs interacting with polygenes. Additionally, when applied to a soybean dataset, one of our models identified putative associated QTLs that conventional models failed to detect. The new models, implemented in the RAINBOWR package available on CRAN, are expected to help uncover complex trait genetic architectures.

植物遗传学中与复杂群体结构相互作用的数量性状位点的全基因组关联研究新方法。
在植物遗传学中,大多数现代关联分析是在将来自几个种群的个体聚集在一起的小组上进行的,包括基因组包含来自不同种群的染色体区域的混合个体。这些面板可以识别具有群体特异性效应的数量性状位点(qtl),以及qtl与多基因背景之间的上位相互作用。然而,分析一个多样化的小组构成了统计分析的挑战。统计模型必须考虑QTL与面板结构之间可能的相互作用,同时严格控制检测错误率。尽管已经开发出了检测种群特异性qtl的模型,但它们依赖于种群结构的先验信息。在实践中,由于许多全基因组关联研究(GWAS)小组表现出复杂的群体结构,这些先验信息可能会缺失。本研究介绍了两种新的qtl检测模型,用于检测与复杂种群结构相互作用的qtl。两者都将单核苷酸多态性/单倍型块与遗传背景之间的相互作用项纳入传统的GWAS模型中。通过模拟研究,将提出的模型与最先进的模型进行了比较,这些模型考虑了不同水平的qtl与其遗传背景的相互作用。结果表明,与仿真设置匹配的模型在检测与多基因相互作用的qtl时最有效,而该模型在检测与多基因相互作用的qtl时优于经典模型。此外,当应用于大豆数据集时,我们的一个模型识别了传统模型未能检测到的假定相关qtl。在CRAN上提供的RAINBOWR包中实现的新模型有望帮助揭示复杂的性状遗传结构。
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来源期刊
Genetics
Genetics GENETICS & HEREDITY-
CiteScore
6.90
自引率
6.10%
发文量
177
审稿时长
1.5 months
期刊介绍: GENETICS is published by the Genetics Society of America, a scholarly society that seeks to deepen our understanding of the living world by advancing our understanding of genetics. Since 1916, GENETICS has published high-quality, original research presenting novel findings bearing on genetics and genomics. The journal publishes empirical studies of organisms ranging from microbes to humans, as well as theoretical work. While it has an illustrious history, GENETICS has changed along with the communities it serves: it is not your mentor''s journal. The editors make decisions quickly – in around 30 days – without sacrificing the excellence and scholarship for which the journal has long been known. GENETICS is a peer reviewed, peer-edited journal, with an international reach and increasing visibility and impact. All editorial decisions are made through collaboration of at least two editors who are practicing scientists. GENETICS is constantly innovating: expanded types of content include Reviews, Commentary (current issues of interest to geneticists), Perspectives (historical), Primers (to introduce primary literature into the classroom), Toolbox Reviews, plus YeastBook, FlyBook, and WormBook (coming spring 2016). For particularly time-sensitive results, we publish Communications. As part of our mission to serve our communities, we''ve published thematic collections, including Genomic Selection, Multiparental Populations, Mouse Collaborative Cross, and the Genetics of Sex.
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