利用极端表型全基因组关联研究鉴定肉仔鸡体重候选基因

Eirini Tarsani, G. Theodorou, I. Palamidi, A. Kominakis
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引用次数: 1

摘要

传统上,全基因组关联研究(GWAS)需要最大数量的基因型和表型动物来有效地检测标记-性状关联。在财政拮据的情况下,应设想其他解决办法,例如用人口的分项抽样进行全球人口普查。在本研究中,我们研究了使用包括6700只肉鸡群体的随机和极端表型样本来检测典型复杂性状(35日龄体重)的显著标记和候选基因的潜力。我们还探讨了使用连续型和二分型来检测标记-性状关联的效用。本研究结果表明,极端表型样本优于随机样本,而连续表型样本的检测效率高于二分表型量表。此外,使用50%的极端表型样本导致在整个群体抽样中鉴定的10个标记中检测到8个。在50%的极端表型样本中发现的推定致病变异位于含有10个生长相关qtl(如胸肌百分比、腹部脂肪重量等)和6个生长相关基因(CACNB1、MYOM2、SLC20A1、ANXA4、FBXO32、SLAIN2)的基因组区域。目前的研究结果提出,在执行具有成本效益的GWAS时,使用50%极端表型采样作为最佳采样策略。
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Identification of Candidate Genes for Body Weight in Broilers Using Extreme-Phenotype Genome-Wide Association Study
Traditionally, genome-wide association studies (GWAS) require maximum numbers of genotyped and phenotyped animals to efficiently detect marker-trait associations. Under financial constraints, alternative solutions should be envisaged such that of performing GWAS with fractioned samples of the population. In the present study, we investigated the potential of using random and extreme phenotype samples of a population including 6,700 broilers in detecting significant markers and candidate genes for a typical complex trait (body weight at 35 days). We also explored the utility of using continuous vs. dichotomized phenotypes to detect marker-trait associations. Present results revealed that extreme phenotype samples were superior to random samples while detection efficacy was higher on the continuous over the dichotomous phenotype scale. Furthermore, the use of 50% extreme phenotype samples resulted in detection of 8 out of the 10 markers identified in whole population sampling. Putative causative variants identified in 50% extreme phenotype samples resided in genomic regions harboring 10 growth-related QTLs (e.g. breast muscle percentage, abdominal fat weight etc.) and 6 growth related genes (CACNB1, MYOM2, SLC20A1, ANXA4, FBXO32, SLAIN2). Current findings proposed the use of 50% extreme phenotype sampling as the optimal sampling strategy when performing a cost-effective GWAS.
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