Genome-wide association study for the level of serum electrolytes in Italian Large White pigs
Genome-wide association study for the level of serum electrolytes in Italian Large White pigs
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DOI：
10.1111/age.12459
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发表时间：
2016-10-01
期刊：
影响因子：
2.4
通讯作者：
Fontanesi, L.
中科院分区：
文献类型：
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作者：
Bovo, S.;Schiavo, G.;Fontanesi, L.
钙、镁、磷是许多生物过程中必不可少的电解质。血液中这些矿物质的失衡可能表明临床相关的疾病，并对推断人类和动物的急性或慢性病理很重要。在这项工作中，我们对843头经过性能测试的意大利大白猪的血清中这三种电解质的水平进行了全基因组关联研究(GWAS)。所有的猪都用Illumina PorcineSNP60珠芯片进行了基因分型，并使用全基因组高效的混合模式关联进行了基因分型。对于钙离子水平，考虑到假发现率(FDR)和0.05，8个单核苷酸多态(SNPs)是显著的，另外8个高于中等关联阈值(P-Nomal(Value)<；5.00E-05)。这些SNPs分布在四条猪染色体(SSC)上：SSC8、SSC11、SSC12和SSC13。特别是，在SSC13和SSC12上检测到的几个可能的不同关联信号位于与钙代谢有关的基因中或与之接近的基因中(P2RY1、RAP2B、SLC9A9、C3orf58、TSC22D2、PLCH1和CACNB1)。只有1个SNP(位于SSC7)和6个SNP(位于SSC2和SSC7)分别与镁和磷水平呈中度相关。后两种矿物质的关联信号可能会识别到迄今尚不为人所知的在其生物学功能和调节中发挥作用的基因。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性的遗传决定的生理机制中所起作用的认识。
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 Ca2+, eight single nucleotide polymorphisms (SNPs) were significant, considering a false discovery rate (FDR) < 0.05, and another eight were above the moderate association threshold (P-nominal (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.