Bovo S, Schiavo G, Mazzoni G, Dall'Olio S, Galimberti G, Calò D G, Scotti E, Bertolini F, Buttazzoni L, Samorè A B, Fontanesi L
Department of Agricultural and Food Sciences, Division of Animal Sciences, University of Bologna, Viale Fanin 46, 40127, Bologna, Italy.
Department of Statistical Sciences "Paolo Fortunati", University of Bologna, Via delle Belle Arti 41, 40126, Bologna, Italy.
Anim Genet. 2016 Oct;47(5):597-602. doi: 10.1111/age.12459. Epub 2016 Jun 14.
Calcium, magnesium and phosphorus are essential electrolytes involved in a large number of biological processes. Imbalance of these minerals in blood may indicate clinically relevant conditions and are important in inferring acute or chronic pathologies in humans and animals. In this work, we carried out a genome-wide association study (GWAS) for the level of these three electrolytes in the serum of 843 performance-tested Italian Large White pigs. All pigs were genotyped with the Illumina PorcineSNP60 BeadChip, and GWAS was carried out using genome-wide efficient mixed-model association. For the level of Ca(2+) , eight single nucleotide polymorphisms (SNPs) were significant, considering a false discovery rate (FDR) < 0.05, and another eight were above the moderate association threshold (Pnominal value < 5.00E-05). These SNPs are distributed in four porcine chromosomes (SSC): SSC8, SSC11, SSC12 and SSC13. In particular, a few putative different signals of association detected on SSC13 and one on SSC12 were in genes or close to genes involved in calcium metabolism (P2RY1, RAP2B, SLC9A9, C3orf58, TSC22D2, PLCH1 and CACNB1). Only one SNP (on SSC7) and six SNPs (on SSC2 and SSC7) showed moderate association with the level of magnesium and phosphorus respectively. The association signals for these two latter minerals might identify genes not known thus far for playing a role in their biological functions and regulations. In conclusion, our GWAS contributed to increased knowledge on the role that calcium, magnesium and phosphorus may play in the genetically determined physiological mechanisms affecting the natural variability of mineral levels in mammalian blood.
钙、镁和磷是参与大量生物过程的必需电解质。血液中这些矿物质的失衡可能表明存在临床相关状况，并且在推断人类和动物的急性或慢性病理方面很重要。在这项研究中，我们对843头经过性能测试的意大利大白猪血清中这三种电解质的水平进行了全基因组关联研究（GWAS）。所有猪都用Illumina PorcineSNP60 BeadChip进行了基因分型，并使用全基因组高效混合模型关联进行了GWAS。对于Ca(2+)水平，考虑到错误发现率（FDR）<0.05，有8个单核苷酸多态性（SNP）具有显著性，另外8个高于中度关联阈值（P标称值<5.00E-05）。这些SNP分布在四条猪染色体（SSC）上：SSC8、SSC11、SSC12和SSC13。特别是，在SSC13上检测到的一些假定的不同关联信号以及在SSC12上的一个信号位于参与钙代谢的基因中或其附近（P2RY1、RAP2B、SLC9A9、C3orf58、TSC22D2、PLCH1和CACNB1）。只有一个SNP（位于SSC7上）和六个SNP（分别位于SSC2和SSC7上）与镁和磷的水平呈中度关联。后两种矿物质的关联信号可能识别出迄今未知在其生物学功能和调节中起作用的基因。总之，我们的GWAS有助于增加对钙、镁和磷在影响哺乳动物血液中矿物质水平自然变异的遗传决定生理机制中可能发挥的作用的认识。
