Investigating the genetic architecture of disease resilience in pigs by genome-wide association studies of complete blood count traits collected from a natural disease challenge model

Abstract

Background Genetic improvement for disease resilience is anticipated to be a practical method to improve efficiency and profitability of the pig industry, as resilient pigs maintain a relatively undepressed level of performance in the face of infection. However, multiple biological functions are known to be involved in disease resilience and this complexity means that the genetic architecture of disease resilience remains largely unknown. Here, we conducted genome-wide association studies (GWAS) of 465,910 autosomal SNPs for complete blood count (CBC) traits that are important in an animal’s disease response. The aim was to identify the genetic control of disease resilience. Results Univariate and multivariate single-step GWAS were performed on 15 CBC traits measured from the blood samples of 2743 crossbred (Landrace × Yorkshire) barrows drawn at 2-weeks before, and at 2 and 6-weeks after exposure to a polymicrobial infectious challenge. Overall, at a genome-wise false discovery rate of 0.05, five genomic regions located on Sus scrofa chromosome (SSC) 2, SSC4, SSC9, SSC10, and SSC12, were significantly associated with white blood cell traits in response to the polymicrobial challenge, and nine genomic regions on multiple chromosomes (SSC1, SSC4, SSC5, SSC6, SSC8, SSC9, SSC11, SSC12, SSC17) were significantly associated with red blood cell and platelet traits collected before and after exposure to the challenge. By functional enrichment analyses using Ingenuity Pathway Analysis (IPA) and literature review of previous CBC studies, candidate genes located nearby significant single-nucleotide polymorphisms were found to be involved in immune response, hematopoiesis, red blood cell morphology, and platelet aggregation. Conclusions This study helps to improve our understanding of the genetic basis of CBC traits collected before and after exposure to a polymicrobial infectious challenge and provides a step forward to improve disease resilience.

Liquid Chromatography–Mass Spectrometry Analysis of Frataxin Proteoforms in Whole Blood as Biomarkers of the Genetic Disease Friedreich’s Ataxia

“…The mammalian frataxin proteoforms would have to be sufficiently different so that they would not be isolated by the IP procedure and/or the peptides derived from the subsequent protease digestion would not interfere in the UHPLC-MRM/MS assay (Figure ). Pig blood, which contains all the cell types found in human blood, was found to meet these criteria. Pig (Sus scrofa) frataxin-M and frataxin-E proteoforms are 67 amino acids longer than the corresponding human proteoforms and only 64% identical (Figure S1).…”

“…This analysis revealed that pig frataxin was significantly different from human frataxin-M and frataxin-E when compared with other species ( Figure S1 ). Therefore, pig blood could potentially provide a relatively inexpensive and readily accessible surrogate matrix with all the characteristics of human blood 30 but with no endogenous interference in the analysis of human frataxin. We report the validation of stable isotope dilution UHPLC-MRM/MS assays for frataxin-M and frataxin-E using pig blood as the surrogate matrix.…”

Assessment of Hematologic and Biochemical Parameters for Healthy Commercial Pigs in China

“…Additionally, hematological characteristics are crucial traits that are associated with immune and metabolic status and diseases in pigs. Previous studies have reported that many blood parameters are heritable in swine [ 10 , 11 ], and serval genes have been identified by GWAS, RNA-seq, and eGWAS in pigs [ 12 , 13 , 14 ]. China has long been regarded as the largest live pig and pork consumption country in the world, and the per capita pork consumption is about 20 kg.…”

Identification of candidate genes associated with bacterial and viral infections in wild boars hunted in Tuscany (Italy)

“…The major histocompatibility complex (MHC), a highly polymorphic family of vertebrate genes involved in initiation and regulation of the immune response, has been the target of considerable investigation of disease resistance and tolerance in wildlife 37 , 38 . Recent advances in genome sequencing, and particularly in the development of high-density single nucleotide polymorphism (SNPs) arrays, have improved genome-wide screening and, therefore, our ability to detect disease-associated genes 39 and to identify the genetic control of disease resilience 40 . For example, in wild boar , Queirós et al 39 found candidate genes (i.e.…”