ArticlePloS one2014
Whole-exome sequencing for the identification of susceptibility genes of Kashin-Beck disease.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Field synopsis and meta-analyses of genetic epidemiological evidence for Kashin-Beck disease, an endemic osteoarthropathy in China.Molecular genetics and genomics : MGG · 2016Pooled it
- An integrative analysis of DNA methylation and transcriptome showed the dysfunction of MAPK pathway was involved in the damage of human chondrocyte induced by T-2 toxin.BMC molecular and cell biology · 2022Article
- Analysis of the clinical characteristics of arthritis with renal disease caused by a NPHS2 gene mutation.Clinical rheumatology · 2021Review
- Abnormal expression of chondroitin sulfate sulfotransferases in the articular cartilage of pediatric patients with Kashin-Beck disease.Histochemistry and cell biology · 2020Article
- Differential gene expression in articular cartilage between rheumatoid arthritis and endemic Kashin-Beck disease.Bioscience reports · 2019Article
- Long noncoding RNA expression profile reveals lncRNAs signature associated with extracellular matrix degradation in kashin-beck disease.Scientific reports · 2017Article
- Mechanisms to protect the privacy of families when using the transmission disequilibrium test in genome-wide association studies.Bioinformatics (Oxford, England) · 2017Article
- Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population.BMC medical genetics · 2017Article
- Genome-wide association study identifies COL2A1 locus involved in the hand development failure of Kashin-Beck disease.Scientific reports · 2017Article
- Sequence capture by hybridization to explore modern and ancient genomic diversity in model and nonmodel organisms.Nucleic acids research · 2016Review
- Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease.Functional & integrative genomics · 2016Article
- Differential Recognition Preferences of the Three Src Homology 3 (SH3) Domains from the Adaptor CD2-associated Protein (CD2AP) and Direct Association with Ras and Rab Interactor 3 (RIN3).The Journal of biological chemistry · 2015Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo identify and investigate the susceptibility genes of Kashin-Beck disease (KBD) in Chinese population.
methodsWhole-exome capturing and sequencing technology was used for the detection of genetic variations in 19 individuals from six families with high incidence of KBD. A total of 44 polymorphisms from 41 genes were genotyped from a total of 144 cases and 144 controls by using MassARRAY under the standard protocol from Sequenom. Association was applied on the data by using PLINK1.07.
resultsIn the sequencing stage, each sample showed approximately 70-fold coverage, thus covering more than 99% of the target regions. Among the single nucleotide polymorphisms (SNPs) used in the transmission disequilibrium test, 108 had a p-value of <0.01, whereas 1056 had a p-value of <0.05. Kyoto Encyclopedia of Genes and Genomes(KEGG) pathway analysis indicates that these SNPs focus on three major pathways: regulation of actin cytoskeleton, focal adhesion, and metabolic pathways. In the validation stage, single locus effects revealed that two of these polymorphisms (rs7745040 and rs9275295) in the human leukocyte antigen (HLA)-DRB1 gene and one polymorphism (rs9473132) in CD2-associated protein (CD2AP) gene have a significant statistical association with KBD.
conclusionsHLA-DRB1 and CD2AP gene were identified to be among the susceptibility genes of KBD, thus supporting the role of the autoimmune response in KBD and the possibility of shared etiology between osteoarthritis, rheumatoid arthritis, and KBD.
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