Ortega M Sofia, Denicol Anna C, Cole John B, Null Daniel J, Taylor Jeremy F, Schnabel Robert D, Hansen Peter J
Department of Animal Sciences, D.H. Barron Reproductive and Perinatal Biology Research Program and Genetics Institute, University of Florida, Gainesville 32611.
Animal Genomics and Improvement Laboratory, Agricultural Research Service, USDA, Beltsville, MD 20705.
J Dairy Sci. 2017 May;100(5):3725-3734. doi: 10.3168/jds.2016-12260. Epub 2017 Mar 2.
Many genetic markers related to health or production traits are not evaluated in populations independent of the discovery population or related to phenotype. Here we evaluated 68 single nucleotide polymorphisms (SNP) in candidate genes previously associated with genetic merit for fertility and production traits for association with phenotypic measurements of fertility in a population of Holstein cows that was selected based on predicted transmitting ability (PTA) for daughter pregnancy rate (DPR; high, ≥1, n = 989; low, ≤ -1.0, n = 1,285). Cows with a high PTA for DPR had higher pregnancy rate at first service, fewer services per conception, and fewer days open than cows with a low PTA for DPR. Of the 68 SNP, 11 were associated with pregnancy rate at first service, 16 with services per conception, and 19 with days open. Single nucleotide polymorphisms in 12 genes (BDH2, BSP3, CAST, CD2, CD14, FUT1, FYB, GCNT3, HSD17B7, IBSP, OCLN, and PCCB) had significant associations with 2 fertility traits, and SNP in 4 genes (CSPP1, FCER1G, PMM2, and TBC1D24) had significant associations with each of the 3 traits. Results from this experiment were compared with results from 2 earlier studies in which the SNP were associated with genetic estimates of fertility. One study involved the same animals as used here, and the other study was of an independent population of bulls. A total of 13 SNP associated with 1 or more phenotypic estimates of fertility were directionally associated with genetic estimates of fertility in the same cow population. Moreover, 14 SNP associated with reproductive phenotype were directionally associated with genetic estimates of fertility in the bull population. Nine SNP (located in BCAS, BSP3, CAST, FUT1, HSD17B7, OCLN, PCCB, PMM2, and TBC1D24) had a directional association with fertility in all 3 studies. Examination of the function of the genes with SNP associated with reproduction in more than one study indicates the importance of steroid hormones and immune function as determinants of reproductive function. All but 1 of the 68 evaluated SNP were variable in 11 breeds besides Holstein, indicating the potential effects of these SNP on reproductive function across breeds of cattle.
许多与健康或生产性状相关的遗传标记，在与发现群体无关的群体中或与表型无关的情况下未得到评估。在此，我们评估了候选基因中的68个单核苷酸多态性（SNP），这些基因先前与生育力和生产性状的遗传价值相关，以研究其与荷斯坦奶牛群体中生育力表型测量值的关联。该群体是根据女儿怀孕率（DPR）的预测传递能力（PTA）进行选择的（高，≥1，n = 989；低，≤ -1.0，n = 1,285）。DPR的PTA高的奶牛与DPR的PTA低的奶牛相比，首次输精时的怀孕率更高，每次受孕的输精次数更少，空怀天数更少。在这68个SNP中，11个与首次输精时的怀孕率相关，16个与每次受孕的输精次数相关，19个与空怀天数相关。12个基因（BDH2、BSP3、CAST、CD2、CD14、FUT1、FYB、GCNT3、HSD17B7、IBSP、OCLN和PCCB）中的单核苷酸多态性与2个生育性状有显著关联，4个基因（CSPP1、FCER1G、PMM2和TBC1D24）中的SNP与所有3个性状都有显著关联。将本实验的结果与之前两项研究的结果进行了比较，在这两项研究中，这些SNP与生育力的遗传估计值相关。一项研究涉及与本文相同的动物，另一项研究是关于一个独立的公牛群体。在同一奶牛群体中，共有13个与1个或多个生育力表型估计值相关的SNP与生育力的遗传估计值呈定向关联。此外，在公牛群体中，14个与繁殖表型相关的SNP与生育力的遗传估计值呈定向关联。9个SNP（位于BCAS、BSP3、CAST、FUT1、HSD17B7、OCLN、PCCB、PMM2和TBC1D24）在所有3项研究中都与生育力呈定向关联。对在不止一项研究中与繁殖相关的SNP所在基因的功能进行研究表明，类固醇激素和免疫功能作为生殖功能的决定因素具有重要性。在68个评估的SNP中，除1个外，其余在荷斯坦以外的11个品种中都是可变的，这表明这些SNP对不同品种牛的生殖功能可能有影响。
