ArticleFrontiers in genetics2013
Genome-Wide Association Identifies TBX5 as Candidate Gene for Osteochondrosis Providing a Functional Link to Cartilage Perfusion as Initial Factor.
Article in Frontiers in genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- Whole-genome resequencing reveals positive selection and introgression signatures and genetic loci associated with early puberty traits in Chinese indigenous pigs.Genetics, selection, evolution : GSE · 2025Article
- Angular limb deformity associated with TSPAN18, NRG3 and NOVA2 in Rambouillet rams.Scientific reports · 2023Article
- Article
- Estimates of genomic heritability and genome-wide association studies for blood parameters in Akkaraman sheep.Scientific reports · 2022Article
- Epigenetic DNA Methylation Signatures Associated With the Severity of Paget's Disease of Bone.Frontiers in cell and developmental biology · 2022Article
- Morphological and Molecular Features of Porcine Mesenchymal Stem Cells Derived From Different Types of Synovial Membrane, and Genetic Background of Cell Donors.Frontiers in cell and developmental biology · 2020Article
- Differential Gene Expression in Articular Cartilage and Subchondral Bone of Neonatal and Adult Horses.Genes · 2019Article
- The oncoprotein TBX3 is controlling severity in experimental arthritis.Arthritis research & therapy · 2019Article
- Development of a Large Animal Model of Osteochondritis Dissecans of the Knee: A Pilot Study.Orthopaedic journal of sports medicine · 2015Article
- Rapid screening for phenotype-genotype associations by linear transformations of genomic evaluations.BMC bioinformatics · 2014Article
- TBX5 identified as a candidate gene responsible for osteochondrosis in pigs.BoneKEy reports · 2013Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteochondrosis (OC) is an orthopedic syndrome of the joints that occurs in children and adolescents and domestic animals, particularly pigs, horses, and dogs. OC is the most frequent cause of leg weakness in rapidly growing pigs causing animal welfare issues and economic losses. In this study, a genome-wide association study (GWAS) was performed using the Porcine 60k SNPChip in animals of the breed Large White (n = 298) to identify chromosome regions and candidate genes associated with OC lesion scores. A total of 19 SNPs on chromosomes (SSC) 3, 5, 8, 10, 14, and 18 were significantly associated with OC lesion scores (p-values ≤ 10(-5)). The SNPs MARC0098684, MARC00840086, MARC0093124, and ASGA0062794 at SSC14 36.1-38.2 Mb encompass a region of six linkage disequilibrium (LD) blocks. The most significant SNP ASGA0062794 is located in a LD block spanning 465 kb and covering the gene encoding T-box transcription factor 5 (TBX5). A SNP (c.54T > C) identified in TBX5 was significantly associated with OC lesion scores in a single-marker analysis. TBX5 c.54T > C showed highest LD with ASGA00627974 (r (2) = 0.96) and superior association with OC lesion scores over other SNPs when included in the genome scan, whereas its treatment as an additional fixed effect in the GWAS statistical model led to a drop of significance of nearby markers. Moreover, real-time PCR showed different transcript abundance of TBX5 in healthy and defect cartilage. The results imply that the association signal obtained on SCC14 is largely attributable to TBX5 c.54T > C likely to be in LD with a regulatory polymorphism of TBX5. The transcription factor TBX5 interacts with GJA5 and MEF2C both being involved in vascularization. This study provides evidence for epistatic interaction of TBX5 and MEF2C, thus supporting deficiency of blood supply to growth cartilage as being fundamental for the initiation of OC.
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