Animal Science Major, Division of Applied Life Science (Brain Korea 21 Program) Gyeongsang National University, Jinju, Korea.
Physiol Genomics. 2012 Jul 3;44(13):657-68. doi: 10.1152/physiolgenomics.00172.2011. Epub 2012 Apr 10.
Clinical-chemical traits are essential when examining the health status of individuals. The aim of this study was to identify quantitative trait loci (QTL) and the associated positional candidate genes affecting clinical-chemical traits in a reciprocal F(2) intercross between Landrace and Korean native pigs. Following an overnight fast, 25 serum phenotypes related to clinical-chemical traits (e.g., hepatic function parameters, renal function parameters, electrolyte, lipids) were measured in >970 F(2) progeny. All experimental samples were subjected to genotyping analysis using 165 microsatellite markers located across the genome. We identified eleven genome-wide significant QTL in six chromosomal regions (SSC 2, 7, 8, 13, 14, and 15) and 59 suggestive QTL in 17 chromosomal regions (SSC 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 12, 13, 14, 15, 16, 17, and 18). We also observed significant effects of reciprocal crosses on some of the traits, which would seem to result from maternal effect, QTL on sex chromosomes, imprinted genes, or genetic difference in mitochondrial DNA. The role of genomic imprinting in clinical-chemical traits also was investigated. Genome-wide analysis revealed a significant evidence for an imprinted QTL in SSC4 affecting serum amylase levels. Additionally, a series of bivariate linkage analysis provided strong evidence that QTL in SSC 2, 13, 15, and 18 have a pleiotropic effect on clinical-chemical traits. In conclusion, our study detected both novel and previously reported QTL influencing clinical-chemical traits in pigs. The identified QTL together with the positional candidate genes identified here could play an important role in elucidating the genetic structure of clinical-chemical phenotype variation in humans and swine.
临床化学特征对于检查个体的健康状况至关重要。本研究旨在鉴定影响长白猪和韩国本地猪杂交 F2 代个体血清生化特征的数量性状基因座（QTL）及其相关候选基因。在禁食过夜后，对>970 个 F2 代个体的 25 种与临床化学特征相关的血清表型（如肝功能参数、肾功能参数、电解质、脂质）进行了测量。所有实验样本均采用分布在整个基因组上的 165 个微卫星标记进行基因分型分析。我们在六个染色体区域（SSC2、7、8、13、14 和 15）中鉴定到 11 个全基因组显著 QTL，在 17 个染色体区域（SSC1、2、3、4、5、6、7、8、9、10、12、13、14、15、16、17 和 18）中鉴定到 59 个提示性 QTL。我们还观察到了一些性状的正反交效应，这似乎是由于母性效应、性染色体上的 QTL、印迹基因或线粒体 DNA 的遗传差异所致。我们还研究了基因组印迹在临床化学特征中的作用。全基因组分析显示，SSC4 上一个影响血清淀粉酶水平的印迹 QTL 具有显著证据。此外，一系列双变量连锁分析提供了强有力的证据，表明 SSC2、13、15 和 18 上的 QTL 对临床化学特征具有多效性。总之，本研究检测到了影响猪临床化学特征的新的和以前报道的 QTL。鉴定出的 QTL 及其在此处鉴定的候选基因可能在阐明人类和猪临床化学表型变异的遗传结构方面发挥重要作用。
