Background: The aim of the present study was to compare the power of single nucleotide polymorphism (SNP)-based genome-wide association study (GWAS) and haplotype-based GWAS for quantitative trait loci (QTL) detection, and to detect novel candidate genes affecting economically important traits in a purebred Duroc population comprising seven-generation pedigree. First, we performed a simulation analysis using real genotype data of this population to compare the power (based on the null hypothesis) of the two methods. We then performed GWAS using both methods and real phenotype data comprising 52 traits, which included growth, carcass, and meat quality traits.
Results: In total, 836 animals were genotyped using the Illumina PorcineSNP60 BeadChip and 14 customized SNPs from regions of known candidate genes related to the traits of interest. The power of SNP-based GWAS was greater than that of haplotype-based GWAS in a simulation analysis. In real data analysis, a larger number of significant regions was obtained by SNP-based GWAS than by haplotype-based GWAS. For SNP-based GWAS, 23 genome-wide significant SNP regions were detected for 17 traits, and 120 genome-wide suggestive SNP regions were detected for 27 traits. For haplotype-based GWAS, 6 genome-wide significant SNP regions were detected for four traits, and 11 genome-wide suggestive SNP regions were detected for eight traits. All genome-wide significant SNP regions detected by haplotype-based GWAS were located in regions also detected by SNP-based GWAS. Four regions detected by SNP-based GWAS were significantly associated with multiple traits: on Sus scrofa chromosome (SSC) 1 at 304 Mb; and on SSC7 at 35-39 Mb, 41-42 Mb, and 103 Mb. The vertnin gene (VRTN) in particular, was located on SSC7 at 103 Mb and was significantly associated with vertebrae number and carcass lengths. Mapped QTL regions contain some candidate genes involved in skeletal formation (FUBP3; far upstream element binding protein 3) and fat deposition (METTL3; methyltransferase like 3).
Conclusion: Our results show that a multigenerational pig population is useful for detecting QTL, which are typically segregated in a purebred population. In addition, a novel significant region could be detected by SNP-based GWAS as opposed to haplotype-based GWAS.
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http://dx.doi.org/10.1186/s12863-016-0368-3 | DOI Listing |
APMIS
January 2025
Department of Clinical Laboratory, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
This study prospectively collected the clinical data, information on respiratory pathogens, and laboratory findings of children with Mycoplasma pneumoniae (M. pneumonia) infection who were hospitalized at the First Affiliated Hospital of Anhui Medical University during the M. pneumoniae outbreak in Hefei City, Anhui Province, China, between October 2023 and December 2023.
View Article and Find Full Text PDFMicrob Genom
January 2025
mEpiLab, School of Veterinary Science, Massey University, Palmerston North, New Zealand.
In Aotearoa New Zealand, urinary tract infections in humans are commonly caused by extended-spectrum beta-lactamase (ESBL)-producing . This group of antimicrobial-resistant bacteria are often multidrug resistant. However, there is limited information on ESBL-producing found in the environment and their link with human clinical isolates.
View Article and Find Full Text PDFJ Family Med Prim Care
December 2024
Department of Medicine, Universiti Teknologi MARA, Puncak Alam, Malaysia, Asia.
Unlabelled: Tuberculosis (TB) can affect any organ, and at times more than one organ in any sequence, in which case it is referred to as disseminated tuberculosis (DTB). We report a patient who presented primarily for psychiatric symptoms of three months' duration, which later turned out to be a case of DTB involving the central nervous system as well as the spine and lungs.
Case Presentation: An elderly lady with subacute onset and worsening behavioural changes of three months' duration was referred for exclusion of organic brain disease.
iScience
January 2025
Department of Biology, University of Copenhagen, 2100 Copenhagen, Denmark.
Chromothripsis, a hallmark of cancer, is characterized by extensive and localized DNA rearrangements involving one or a few chromosomes. However, its genome-wide frequency and characteristics in urothelial carcinoma (UC) remain largely unknown. Here, by analyzing single-regional and multi-regional whole-genome sequencing (WGS), we present the chromothripsis blueprint in 488 UC patients.
View Article and Find Full Text PDFPeerJ
January 2025
Museum of Natural History, University of Wroclaw, Wroclaw, Poland.
Background: Legless lizards, the slow worms of the genus are forming secondary contact zones within their Europe-wide distribution.
Methods: We examined 35 populations of and to identify the level of morphological and genetic divergence in Poland. We applied a conventional study approach using metric, meristic, and categorial (coloration) features for a phenotype analysis, and two standard molecular markers, a mitochondrial (NADH-ubiquinone oxidoreductase chain 2; ) and a nuclear (V(D)J recombination-activating protein 1; ) one.
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