Baneh Hasan, Elatkin Nikolay, Gentzbittel Laurent
Project Center for Agro Technologies, Skolkovo Institute of Science and Technology, Moscow, 121205, Russia.
LLC "Miratorg-Genetika", Moscow, Russia.
Genet Sel Evol. 2025 Jun 1;57(1):26. doi: 10.1186/s12711-025-00970-6.
Carcass related traits are economically important traits for the beef industry, which affect quantity, quality and pricing of meat and farmers profitability. The current study was carried out to identify genomic regions associated with carcass traits including carcass weight (CW), marbling score (MS), rib-eye area (REA), and back fat thickness (BFT). Genome-wide association studies (GWAS) were performed using linear mixed models on 6,511,978 imputed whole genome sequence (WGS) variants in a population of 13,241 Angus beef cattle. The genetic architecture of the traits was evaluated based on the GWAS results.
With a threshold of p-value < 3.96 × 10, 842, 745, 340, and 101 SNPs located in 13 genomic regions were significantly associated with CW, MS, REA, and BFT, respectively. While the majority of the identified quantitative trait loci (QTL) were trait-specific, two QTLs with pleiotropic effect were identified, including a QTL on BTA7 (88.25-91.96 Mb) affecting CW, MS and REA, and a QTL on BTA20 (4.55-5.01 Mb) affecting CW and BFT. Several important genes are harbored by the detected QTLs, which can be considered potential candidate genes for carcass traits in Angus beef cattle. Our findings also showed that higher density panels are more powerful in GWAS, such that the signals on BTA6 affecting CW, and two signals on BTA17 and BTA18 affecting MS were not detectable using medium SNP array genotypes. The allele substitution effects and additive genetic variances of the imputed variants followed a bell-shaped and a scaled inverse chi-squared distribution, respectively. Among functional categories, missense variants had the highest allele substitution effects for CW, MS and BFT, while 3' UTR variants had higher effects for REA, compared to other functional classes.
Our findings highlight the power of using imputation to perform GWAS and provide some valuable information for a better understanding of the underlying genetic background and architecture of carcass traits in beef cattle.
胴体相关性状是牛肉产业中具有经济重要性的性状,会影响肉的产量、品质和价格以及养殖户的盈利能力。当前研究旨在鉴定与胴体性状相关的基因组区域,这些性状包括胴体重(CW)、大理石花纹评分(MS)、眼肌面积(REA)和背膘厚度(BFT)。利用线性混合模型,对13241头安格斯肉牛群体中的6511978个推算全基因组序列(WGS)变异进行了全基因组关联研究(GWAS)。基于GWAS结果评估了这些性状的遗传结构。
在p值<3.96×10的阈值下,位于13个基因组区域的842、745、340和101个单核苷酸多态性(SNP)分别与CW、MS、REA和BFT显著相关。虽然所鉴定的大多数数量性状位点(QTL)是性状特异性的,但鉴定出了两个具有多效性的QTL,包括位于BTA7(88.25 - 91.96 Mb)上影响CW、MS和REA的一个QTL,以及位于BTA20(4.55 - 5.01 Mb)上影响CW和BFT的一个QTL。检测到的QTL中包含几个重要基因,可被视为安格斯肉牛胴体性状的潜在候选基因。我们的研究结果还表明,在GWAS中更高密度的基因分型面板更具效力,以至于使用中等密度SNP芯片基因型无法检测到位于BTA6上影响CW的信号,以及位于BTA17和BTA18上影响MS的两个信号。推算变异的等位基因替代效应和加性遗传方差分别遵循钟形分布和尺度化逆卡方分布。在功能类别中,错义变异对CW、MS和BFT具有最高的等位基因替代效应,而与其他功能类别相比,3'非翻译区(UTR)变异对REA具有更高的效应。
我们的研究结果突出了利用推算进行GWAS的效力,并为更好地理解肉牛胴体性状的潜在遗传背景和结构提供了一些有价值的信息。