COL9A1 Gene Polymorphism Is Associated with Kashin-Beck Disease in a Northwest Chinese Han Population

Shi, Xiaowei; Zhang, Feng; Lv, Aili; Wen, Yan; Guo, Xiong

doi:10.1371/journal.pone.0120365

Cited by 23 publications

(27 citation statements)

References 30 publications

(40 reference statements)

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“…Previous studies have investigated the relationship between COL9A1 sequence variations and risk of such conditions, such as Kashin-Beck disease, multiple epiphyseal dysplasia, and osteoarthritis (Snelgrove et al, 2005;Itoh et al, 2006;Shi et al, 2015). Shi et al (2015) performed a study involving 274 Kashin-Beck disease patients and 248 healthy controls, reporting a significant relationship between COL9A1 rs6910140 and risk of this pathology.…”

Section: Discussionmentioning

confidence: 99%

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Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population

Zhao

Wang

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Talipes equinovarus is a common congenital deformity. COL9A1 polymorphisms are associated with the development of articular cartilage-related diseases. In the current study, we evaluated the relationship between COL9A1 rs1135056, rs35470562, and rs592121 genetic polymorphisms and risk of congenital talipes equinovarus. Between January 2013 and July 2015, 87 children with congenital talipes equinovarus and 174 control subjects were recruited from the Fourth People's Hospital of Shaanxi and the First Hospital of Yulin. Genotyping of COL9A1 rs1135056, rs35470562, and rs592121 was performed using polymerase chain reaction-restriction fragment length polymorphism. Using conditional regression analysis, the AA genotype of COL9A1 rs35470562 was found to be significantly associated with increased risk of congenital talipes equinovarus compared to the GG 2 X.L. Zhao et al. Genetics and Molecular Research 15 (4): gmr15048773genotype [odds ratio (OR) = 2.60, 95% confidence interval (CI) = 1.06-6.32]. In addition, under a recessive model, rs35470562 AA carriers were observed to be at higher risk for this condition in comparison to individuals with GG or GA genotypes (OR = 2.23, 95%CI = 1.03-5.04). However, no significant relationship was established between the COL9A1 rs1135056 and rs592121 polymorphisms and congenital talipes equinovarus in any of the genetic models tested. In conclusion, our results indicate that the COL9A1 rs35470562 variant may contribute to congenital talipes equinovarus susceptibility in the Chinese population examined.

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Section: Discussionmentioning

confidence: 99%

“…Shi et al (2015) performed a study involving 274 Kashin-Beck disease patients and 248 healthy controls, reporting a significant relationship between COL9A1 rs6910140 and risk of this pathology. However, other investigations have generated contrasting results.…”

Section: Discussionmentioning

confidence: 99%

Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population

Zhao

Wang

et al. 2016

Genet. Mol. Res.

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“…For instance, Lu et al analyzed 10,823 subjects from 1361 families and observed significant familial aggregation of KBD with an estimated heritability of 41.76 % . Previous research has shown that HLA-DRB1 , ABI3BP , GPX1 (Huang et al 2013;Xiong et al 2010), GPX4 ), CO-L9A1 (Shi et al 2015), SEPS1 (Du et al 2015), ITPR2 , CD2AP , and TNF ) genes were associated with KBD. However, the KBD risk explained by identified susceptibility genes is limited.…”

Section: Introductionmentioning

confidence: 96%

Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease

Zhang

Dai

Lin³

et al. 2015

Funct Integr Genomics

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The objective of this study was to identify novel causal genes involved in the pathogenesis of Kashin-Beck disease (KBD). A representative grade III KBD sib pair with serious skeletal growth and development failure was subjected to exome sequencing using the Illumina Hiseq2000 platform. The detected gene mutations were then filtered against the data of 1000 Genome Project, dbSNP database, and BGI inhouse database, and replicated by a genome-wide association study (GWAS) of KBD. Ninety grade II or III KBD patients with extreme KBD phenotypes and 1627 healthy controls were enrolled in the GWAS. Affymetrix Genome-Wide Human SNP Array 6.0 was applied for genotyping. PLINK software was used for association analysis. We identified a novel 106T>C at the 3'UTR of the FGF12 gene, which has not been reported by now. Sequence alignment observed high conversation at the mutated 3'UTR+106T>C locus across various vertebrates. In the GWAS of KBD, we detected nine SNPs of the FGF12 gene showing association evidence (P value < 0.05) with KBD. The most significant association signal was observed at rs1847340 (P value = 1.90 × 10(-5)). This study suggests that FGF12 was a susceptibility gene of KBD. Our results provide novel clues for revealing the pathogenesis of KBD and the biological function of FGF12.

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“…Recent epidemiological and genetic study results suggest the interaction between environment factors and susceptibility genes might play a role in the KBD (Shi, Zhang, Lv, Wen, & Guo, ). The pathogenesis of KBD remains elusive (Zhang et al, ).…”

Section: Introductionmentioning

confidence: 99%

Genetic variants in the ITPR2 gene are associated with Kashin‐Beck Disease in Tibetan

Bai

Liu

et al. 2019

Molec Gen & Gen Med

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Background Kashin‐Beck Disease (KBD) is a chronic, endemic osteoarthropathy. Inositol 1,4,5‐triphosphate receptor type 2 ( ITPR2 ) gene is involved in chondrocytes. We speculated that single‐nucleotide polymorphisms (SNPs) in ITPR2 gene may have an association with KBD in Tibetan. Methods To prove this hypothesis, a total of eight SNPs (rs1049376, rs11048526, rs11048556, rs11048585, rs16931011, rs10842759, rs2230372, and rs7134213) were selected, and genotyped in 316 KBD patients and 320 controls. The association between ITPR2 variants and KBD risk was assessed by logistic regression analysis. Results The study identified significant association ( p = 0.019) between KBD and a novel locus, ITPR2 SNP rs11048526 (OR = 1.49, 95% CI = 1.07–2.08). The variant A/G genotype frequency in rs11048526 had a significantly increased risk of KBD in co‐dominant model (OR = 3.70, 95% CI = 1.26–10.89, p = 0.018), dominant model (OR = 3.56, 95% CI = 1.22–10.40, p = 0.020), log‐additive model (OR = 3.00, 95% CI = 1.12–8.00, p = 0.029) after adjusted for age and gender. Conclusion The results indicate a potential association between ITPR2 and KBD risk in Tibetan. Further work is required to confirm these results and explore the mechanisms of these effects.

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COL9A1 Gene Polymorphism Is Associated with Kashin-Beck Disease in a Northwest Chinese Han Population

Cited by 23 publications

References 30 publications

Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population

Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population

Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease

Genetic variants in the ITPR2 gene are associated with Kashin‐Beck Disease in Tibetan

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