ArticlePloS one2015
COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 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
- COL9A1-related disorder with pectus carinatum, without epiphyseal dysplasia: case report and review of literature.Skeletal radiology · 2025Review
- Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.Orphanet journal of rare diseases · 2024Article
- Association ofOpen medicine (Warsaw, Poland) · 2024Article
- Assessment of the COL9A1 Single Nucleotide Polymorphism with Severity of clubfoot in a paediatric population along with their biological mothers.Journal of clinical orthopaedics and trauma · 2022Article
- Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan.Molecular genetics & genomic medicine · 2019Article
- Article
- 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
- Investigation of MMP-1 genetic polymorphisms and protein expression and their effects on the risk of Kashin-Beck disease in the northwest Chinese Han population.Journal of orthopaedic surgery and research · 2016Article
- Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease.Functional & integrative genomics · 2016Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWe sought to determine whether genomic polymorphism in collagen IX genes (COL9A) was associated with Kashin-Beck disease (KBD).
methodsTwenty seven single nucleotide polymorphisms (SNPs) in COL9AI, COL9A2 and COL9A3 were genotyped in 274 KBD cases and 248 healthy controls using the Sequenom MassARRAY system. Associations between the COL9A polymorphism and KBD risk were detected using an unconditional logistic regression model. Linkage disequilibrium (LD) and haplotypes analysis were performed with the Haploview software.
resultsAfter Bonferroni correction, the frequency distribution of genotypes in rs6910140 in COL9A1 was significantly different between the KBD and the control groups (X2 = 16.74, df = 2, P = 0.0002). Regression analysis showed that the allele "C" in SNP rs6910140 had a significant protective effect on KBD [odds ratio (OR) = 0.49, 95% confidence interval (CI) = 0.34-0.70, P = 0.0001]. The frequencies of alleles and genotypes in rs6910140 were significantly different among subjects of different KBD stages (allele: X2 = 7.82, df = 2, P = 0.02, genotype: X2 = 14.81, df = 4, P = 0.005). However, haplotype analysis did not detect any significant association between KBD and COL9A1, COL9A2 and COL9A3.
conclusionsWe observed a significant association between rs6910140 of COL9A1 and KBD, suggesting a role of COL9A1 in the development of KBD.
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