Abstract

Colony-stimulating factor 1 receptor (CSF1R) plays an important role in the process of innate immunity and inflammation, thus it was hypothesized that the CSF1R gene might affect the occurrence of mammalian mastitis. The purpose of this study was to investigate the association between nucleotide variations of CSF1R gene and mastitis in Australian white sheep (AUWs). Two indel variants (Intron5-27 bp and Intron5-22 bp) within the CSF1R gene have been found in AUWs. The Chi-square test for different mastitis symptoms demonstrated that individuals without symptoms of mastitis had higher ‘I’ allele frequencies and ‘II’ genotype frequencies (p < 0.01). We found strong correlation between mastitis and lactation score through Pearson correlation analysis. Therefore, we also analyzed the relationship between the two indel loci and lactation, we found that the lactation ability of individuals with type II was stronger than that of DD genotype at the Intron5-22 bp (p < 0.05). Additionally, we found that the combined genotype of the two loci was significantly associated with mastitis (p < 0.01). These findings indicated that CSF1R mutations were significantly associated with mastitis, and could affect lactation performance, suggesting that two deletion sites could be used as the effective molecular markers against mastitis in sheep breeding.

摘要

集落刺激因子1受体（CSF1R）在先天免疫和炎症过程中起重要作用，因此推测CSF1R基因可能影响哺乳动物乳腺炎的发生。本研究的目的是调查澳大利亚白羊 (AUWs) CSF1R基因核苷酸变异与乳腺炎之间的关联。已在 AUW 中发现了CSF1R基因内的两个插入缺失变体（Intron5-27 bp 和 Intron5-22 bp） 。不同乳腺炎症状的卡方检验表明，没有乳腺炎症状的个体具有较高的“I”等位基因频率和“II”基因型频率（p < 0.01)。我们通过 Pearson 相关分析发现乳腺炎和泌乳评分之间存在很强的相关性。因此，我们还分析了这两个插入缺失位点与泌乳的关系，我们发现在Intron5-22 bp处，II型个体的泌乳能力强于DD基因型（p  < 0.05）。此外，我们发现这两个位点的组合基因型与乳腺炎显着相关（p  < 0.01）。这些发现表明CSF1R突变与乳腺炎显着相关，并可能影响泌乳性能，这表明两个缺失位点可作为绵羊育种中乳腺炎的有效分子标记。