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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.
J Orthop Surg Res. 2016 May 31; 11(1):64.JO

Abstract

BACKGROUND

The etiology of Kashin-Beck disease (KBD), an endemic osteochondropathy, is largely unknown. Matrix metalloproteinase-1 (MMP-1) plays a central role in the initiation and progression of cartilage destruction; however, no study has reported on the relationship between KBD and MMP-1. This study was to investigate the role of MMP-1 in the pathogenesis and progression of KBD.

METHODS

Single nucleotide polymorphism (SNP) genotyping was conducted for 274 KBD cases and 248 healthy controls using the Sequenom MassARRAY system. Additionally, the expression of MMP-1 in the knee articular cartilage of 22 KBD patients and 21 controls was analyzed by immunohistochemistry, and the concentration of MMP-1 in their joint fluid was also measured by enzyme-linked immunosorbent assay (ELISA).

RESULTS

The results showed that two SNPs (rs470221 and rs1144396) had a weak association with increased KBD risk; however, the significance of these results did not survive Bonferroni's correction. Moreover, the percentages of cells expressing MMP-1 in each layer of cartilage were significantly higher in the KBD group than in the controls (F = 11.41-28.31, P = 0.002-0.000). The concentration of MMP-1 in KBD joint fluid was significantly higher than that in the controls (t = 9.83, P < 0.0001).

CONCLUSIONS

The increased expression of MMP-1 has a potential effect on the risk of KBD in the northwest Chinese Han population. However, six selected SNPs in the MMP-1 gene might not be useful as significant markers for predicting KBD susceptibility in Chinese Han population. Therefore, future studies in the association of MMP-1 with KBD should focus on other candidate SNPs.

Authors+Show Affiliations

Department of Paediatrics, The First Affiliated Hospital of Medical Collage of Xi'an Jiaotong University, Xi'an, Shannxi, 710061, People's Republic of China.School of Public Health, Health Science Center, 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 Jiaotong University, No. 76 Yanta West Road, Xi'an, 710061, People's Republic of China.Institute for Endemic Disease Control and Prevention of Qinhai Province, Xining, Qinghai, 811602, People's Republic of China.School of Public Health, Health Science Center, 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 Jiaotong University, No. 76 Yanta West Road, Xi'an, 710061, People's Republic of China.School of Public Health, Health Science Center, 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 Jiaotong University, No. 76 Yanta West Road, Xi'an, 710061, People's Republic of China.School of Public Health, Health Science Center, 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 Jiaotong University, No. 76 Yanta West Road, Xi'an, 710061, People's Republic of China.School of Public Health, Health Science Center, 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 Jiaotong University, No. 76 Yanta West Road, Xi'an, 710061, People's Republic of China. guox@mail.xjtu.edu.cn.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

27245218

Citation

Shi, Xiaowei, et al. "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, vol. 11, no. 1, 2016, p. 64.
Shi X, Lv A, Ma J, et al. 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. J Orthop Surg Res. 2016;11(1):64.
Shi, X., Lv, A., Ma, J., Zhang, F., Wen, Y., Zhang, Z., & Guo, X. (2016). 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, 11(1), 64. https://doi.org/10.1186/s13018-016-0398-6
Shi X, et al. 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. J Orthop Surg Res. 2016 May 31;11(1):64. PubMed PMID: 27245218.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Shi,Xiaowei, AU - Lv,Aili, AU - Ma,Jing, AU - Zhang,Feng, AU - Wen,Yan, AU - Zhang,Zengtie, AU - Guo,Xiong, Y1 - 2016/05/31/ PY - 2016/03/19/received PY - 2016/05/19/accepted PY - 2016/6/2/entrez PY - 2016/6/2/pubmed PY - 2017/6/1/medline KW - Enzyme-linked immunosorbent assay KW - Immunohistochemistry KW - Kashin-Beck disease KW - Matrix metalloproteinase-1 KW - Single nucleotide polymorphisms SP - 64 EP - 64 JF - Journal of orthopaedic surgery and research JO - J Orthop Surg Res VL - 11 IS - 1 N2 - BACKGROUND: The etiology of Kashin-Beck disease (KBD), an endemic osteochondropathy, is largely unknown. Matrix metalloproteinase-1 (MMP-1) plays a central role in the initiation and progression of cartilage destruction; however, no study has reported on the relationship between KBD and MMP-1. This study was to investigate the role of MMP-1 in the pathogenesis and progression of KBD. METHODS: Single nucleotide polymorphism (SNP) genotyping was conducted for 274 KBD cases and 248 healthy controls using the Sequenom MassARRAY system. Additionally, the expression of MMP-1 in the knee articular cartilage of 22 KBD patients and 21 controls was analyzed by immunohistochemistry, and the concentration of MMP-1 in their joint fluid was also measured by enzyme-linked immunosorbent assay (ELISA). RESULTS: The results showed that two SNPs (rs470221 and rs1144396) had a weak association with increased KBD risk; however, the significance of these results did not survive Bonferroni's correction. Moreover, the percentages of cells expressing MMP-1 in each layer of cartilage were significantly higher in the KBD group than in the controls (F = 11.41-28.31, P = 0.002-0.000). The concentration of MMP-1 in KBD joint fluid was significantly higher than that in the controls (t = 9.83, P < 0.0001). CONCLUSIONS: The increased expression of MMP-1 has a potential effect on the risk of KBD in the northwest Chinese Han population. However, six selected SNPs in the MMP-1 gene might not be useful as significant markers for predicting KBD susceptibility in Chinese Han population. Therefore, future studies in the association of MMP-1 with KBD should focus on other candidate SNPs. SN - 1749-799X UR - https://www.unboundmedicine.com/medline/citation/27245218/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_ L2 - https://josr-online.biomedcentral.com/articles/10.1186/s13018-016-0398-6 DB - PRIME DP - Unbound Medicine ER -