PDF(Pubmed)
Abstract：
A genome-wide association study of resistance to retained placenta (RETP) using 632,212 Holstein cows and 74,747 SNPs identified 200 additive effects with p-values < 10-8 on thirteen chromosomes but no dominance effect was statistically significant. The regions of 87.61-88.74 Mb of Chr09 about 1.13 Mb in size had the most significant effect in LOC112448080 and other highly significant effects in CCDC170 and ESR1, and in or near RMND1 and AKAP12. Four non-ESR1 genes in this region were reported to be involved in ESR1 fusions in humans. Chr23 had the largest number of significant effects that peaked in SLC17A1, which was involved in urate metabolism and transport that could contribute to kidney disease. The PKHD1 gene contained seven significant effects and was downstream of another six significant effects. The ACOT13 gene also had a highly significant effect. Both PKHD1 and ACOT13 were associated with kidney disease. Another highly significant effect was upstream of BOLA-DQA2. The KITLG gene of Chr05 that acts in utero in germ cell and neural cell development, and hematopoiesis was upstream of a highly significant effect, contained a significant effect, and was between another two significant effects. The results of this study provided a new understanding of genetic factors underlying RETP in U.S. Holstein cows.
摘要：
使用632,212头荷斯坦奶牛和74,747个SNP对保留胎盘（RETP）的抗性进行的全基因组关联研究确定了200个加性效应，p值<10-8在13条染色体上，但没有优势效应具有统计学意义。Chr09的87.61-88.74Mb大小约1.13Mb的区域在LOC112448080中具有最显着的作用，在CCDC170和ESR1中以及在RMND1和AKAP12中或附近具有其他非常显着的作用。据报道，该区域中的四个非ESR1基因参与了人类的ESR1融合。Chr23具有在SLC17A1中达到峰值的最多数量的显著作用,其涉及尿酸盐代谢和转运,这可能导致肾脏疾病。PKHD1基因包含七个显着的作用，并且位于另外六个显着的作用的下游。ACOT13基因也具有非常显著的效应。PKHD1和ACOT13均与肾脏疾病相关。另一个非常显著的效果是BOLA-DQA2的上游。Chr05的KITLG基因在生殖细胞和神经细胞发育中在子宫中起作用，造血是一个非常显著的效应的上游，包含了一个显著的效果，介于另外两个重要影响之间。这项研究的结果为美国荷斯坦奶牛RETP的遗传因素提供了新的理解。
