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COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population.
PLoS One. 2015; 10(3):e0120365.Plos

Abstract

OBJECTIVE

We sought to determine whether genomic polymorphism in collagen IX genes (COL9A) was associated with Kashin-Beck disease (KBD).

METHODS

Twenty 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.

RESULTS

After 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.

CONCLUSIONS

We observed a significant association between rs6910140 of COL9A1 and KBD, suggesting a role of COL9A1 in the development of KBD.

Authors+Show Affiliations

Center of Maternal and Child Health Care, The First Affiliated Hospital of Medical Collage of Xi'an Jiaotong University, Xi'an, Shannxi, PR of China.School of Public Health, Health Science Center, Xi'an Jiaotong University, Key Laboratory of Environment and Gene Related Diseases of Ministry of Education, Key Laboratory of Trace Elements and Endemic Diseases of Ministry of Health, Xi'an, Shannxi, PR of China.School of Public Health, Health Science Center, Xi'an Jiaotong University, Key Laboratory of Environment and Gene Related Diseases of Ministry of Education, Key Laboratory of Trace Elements and Endemic Diseases of Ministry of Health, Xi'an, Shannxi, PR of China.School of Public Health, Health Science Center, Xi'an Jiaotong University, Key Laboratory of Environment and Gene Related Diseases of Ministry of Education, Key Laboratory of Trace Elements and Endemic Diseases of Ministry of Health, Xi'an, Shannxi, PR of China.School of Public Health, Health Science Center, Xi'an Jiaotong University, Key Laboratory of Environment and Gene Related Diseases of Ministry of Education, Key Laboratory of Trace Elements and Endemic Diseases of Ministry of Health, Xi'an, Shannxi, PR of China.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

25774918

Citation

Shi, Xiaowei, et al. "COL9A1 Gene Polymorphism Is Associated With Kashin-Beck Disease in a Northwest Chinese Han Population." PloS One, vol. 10, no. 3, 2015, pp. e0120365.
Shi X, Zhang F, Lv A, et al. COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population. PLoS ONE. 2015;10(3):e0120365.
Shi, X., Zhang, F., Lv, A., Wen, Y., & Guo, X. (2015). COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population. PloS One, 10(3), e0120365. https://doi.org/10.1371/journal.pone.0120365
Shi X, et al. COL9A1 Gene Polymorphism Is Associated With Kashin-Beck Disease in a Northwest Chinese Han Population. PLoS ONE. 2015;10(3):e0120365. PubMed PMID: 25774918.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population. AU - Shi,Xiaowei, AU - Zhang,Feng, AU - Lv,Aili, AU - Wen,Yan, AU - Guo,Xiong, Y1 - 2015/03/16/ PY - 2014/11/24/received PY - 2015/01/21/accepted PY - 2015/3/17/entrez PY - 2015/3/17/pubmed PY - 2015/10/17/medline SP - e0120365 EP - e0120365 JF - PloS one JO - PLoS ONE VL - 10 IS - 3 N2 - OBJECTIVE: We sought to determine whether genomic polymorphism in collagen IX genes (COL9A) was associated with Kashin-Beck disease (KBD). METHODS: Twenty 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. RESULTS: After 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. CONCLUSIONS: We observed a significant association between rs6910140 of COL9A1 and KBD, suggesting a role of COL9A1 in the development of KBD. SN - 1932-6203 UR - https://www.unboundmedicine.com/medline/citation/25774918/COL9A1_gene_polymorphism_is_associated_with_Kashin_Beck_disease_in_a_northwest_Chinese_Han_population_ L2 - http://dx.plos.org/10.1371/journal.pone.0120365 DB - PRIME DP - Unbound Medicine ER -