METHODS: The present study employed a genome-wide association study (GWAS) and linkage disequilibrium (LD) analysis to precisely map the genetic locus underlying the polled phenotype in goats.
RESULTS: The analysis conducted in our study revealed a total of 320 genome-wide significant single nucleotide polymorphisms (SNPs) associated with the horned/polled phenotype in goats. These SNPs exhibited two distinct peaks on chromosome 1, spanning from 128,817,052 to 133,005,441 bp and from 150,336,143 to 150,808,639 bp. The present study identified three genome-wide significant SNPs, namely Chr1:129789816, Chr1:129791507, and Chr1:129791577, as potential markers of PIS-affected goats. The results of our LD analysis suggested a potential association between MRPS22 and infertile intersex individuals, as well as a potential association between ERG and the polled trait in goats.
CONCLUSIONS: We have successfully identified three marker SNPs closely linked to PIS, as well as several candidate genes associated with the polled trait in goats. These results may contribute to the development of SNP chips for early prediction of PIS in goats, thereby facilitating breeding programs aimed at producing fertile herds with polled traits.
方法:本研究采用了全基因组关联研究(GWAS)和连锁不平衡(LD)分析,以精确地定位山羊中被调查表型的遗传位点。
结果:在我们的研究中进行的分析揭示了总共320个与山羊有角/轮询表型相关的全基因组显著单核苷酸多态性(SNP)。这些SNP在1号染色体上表现出两个不同的峰,跨越128,817,052至133,005,441bp和150,336,143至150,808,639bp。本研究确定了三个全基因组显著的SNP,即Chr1:129789816,Chr1:129791507和Chr1:129791577,作为受PIS影响的山羊的潜在标记。我们的LD分析结果表明MRPS22与不育性个体之间存在潜在关联,以及ERG与山羊调查性状之间的潜在关联。
结论:我们已经成功鉴定了与PIS密切相关的三个标记SNP,以及与山羊的调查性状相关的几个候选基因。这些结果可能有助于开发用于山羊PIS早期预测的SNP芯片,从而促进旨在生产具有轮询性状的肥沃牛群的育种计划。