PMID- 34980041
OWN - NLM
STAT- MEDLINE
DCOM- 20220105
LR  - 20220531
IS  - 1471-2474 (Electronic)
IS  - 1471-2474 (Linking)
VI  - 23
IP  - 1
DP  - 2022 Jan 3
TI  - Polymorphism of MMP-3 gene and imbalance expression of MMP-3 / TIMP-1 in 
      articular cartilage are associated with an endemic osteochondropathy, Kashin- 
      Beck disease.
PG  - 3
LID - 10.1186/s12891-021-04952-9 [doi]
LID - 3
AB  - BACKGROUND: The etiology of Kashin-Beck disease (KBD), an endemic 
      osteochondropathy, is largely unknown. Matrix metalloproteinase-3 (MMP-3) plays a 
      central role in the initiation and progression of cartilage destruction, however, 
      no study has reported on the relationship between KBD and MMP-3. The objective of 
      this study was to explore the polymorphism of MMP-3 gene and expression of MMP-3 
      / TIMP-1(Tissue inhibitors of matrixmetalloproteinases-1) in the pathogenesis of 
      KBD. METHODS: Single nucleotide polymorphism (SNP) genotyping was conducted in 
      274 KBD cases and 248 healthy controls for eight SNPs in MMP-3 using the Sequenom 
      MassARRAY system. Additionally, the expression of MMP-3、TIMP-1 in different 
      layers of the articular cartilage was analyzed by immunohistochemistry for 22 KBD 
      patients, 15 osteoarthritis (OA) patients and 21 controls. RESULTS: The results 
      showed that six SNPs (rs520540、rs591058、rs679620、rs602128、rs639752 and rs678815) 
      in MMP-3 were associated with the increased risk of KBD, however, after 
      Bonferroni correction, only the SNP rs679620 in the recessive model remained 
      significant difference (OR = 2.31, 95%CI = 1.29-4.14, P = 0.0039), homozygous for 
      "T" allele have a risk for KBD than "C" allele carriers. Moreover, the 
      percentages of cells expressing MMP-3 in articular cartilage were significantly 
      higher in the KBD and OA groups than in the controls (t = 5.37 and 4.19, P<0.01). 
      While the KBD and OA groups had lower levels of TIMP-1 positive staining compared 
      with the controls (t = 5.23and 5.06, P<0.01). And there was no significant 
      different between KBD and OA for the levels of MMP-3 and TIMP-1 positive staining 
      (t = 0.05and 0.28, P>0.05). CONCLUSIONS: MMP-3 is associated with the 
      susceptibility of KBD, and the imbalance expression of MMPs / TIMPs leading to 
      cartilage degradation may play an important role in cartilage degradation and 
      osteoarthritis formation in OA and KBD.
CI  - (c) 2021. The Author(s).
FAU - Shi, Bohui
AU  - Shi B
AD  - Department of Breast Surgery, The First Affiliated Hospital of Xi'an Jiaotong 
      University, Xi'an, Shaanxi, 710061, PR China.
FAU - Guo, Xiong
AU  - Guo X
AD  - School of Public Health, Xi'an Jiaotong University 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, 
      Shaanxi, 710061, PR China.
FAU - Iv, Aili
AU  - Iv A
AD  - School of Nursing, Xi'an Jiaotong University Health Science Center, Xi'an, 
      Shaanxi, 710061, PR China.
FAU - Zhang, Zengtie
AU  - Zhang Z
AD  - School of Public Health, Xi'an Jiaotong University 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, 
      Shaanxi, 710061, PR China.
FAU - Shi, Xiaowei
AU  - Shi X
AD  - Department of Paediatrics, The First Affiliated Hospital of Xi'an Jiaotong 
      University, Xi'an, Shaanxi, 710061, PR China. shixw@xjtufh.edu.cn.
LA  - eng
PT  - Journal Article
DEP - 20220103
PL  - England
TA  - BMC Musculoskelet Disord
JT  - BMC musculoskeletal disorders
JID - 100968565
RN  - 0 (TIMP1 protein, human)
RN  - 0 (Tissue Inhibitor of Metalloproteinase-1)
RN  - EC 3.4.24.17 (MMP3 protein, human)
RN  - EC 3.4.24.17 (Matrix Metalloproteinase 3)
SB  - IM
EIN - BMC Musculoskelet Disord. 2022 Feb 15;23(1):148. PMID: 35168577
MH  - *Cartilage, Articular
MH  - Chondrocytes
MH  - Humans
MH  - *Kashin-Beck Disease/diagnosis/epidemiology/genetics
MH  - Matrix Metalloproteinase 3/genetics
MH  - Tissue Inhibitor of Metalloproteinase-1/genetics
PMC - PMC8725486
OTO - NOTNLM
OT  - Immunohistochemistry
OT  - Kashin-Beck disease
OT  - Matrix metalloproteinase-3
OT  - Single nucleotide polymorphisms
OT  - Tissue inhibitors of matrixmetalloproteinases-1
COIS- No conflicts of interest.
EDAT- 2022/01/05 06:00
MHDA- 2022/01/06 06:00
PMCR- 2022/01/03
CRDT- 2022/01/04 05:40
PHST- 2021/03/25 00:00 [received]
PHST- 2021/12/06 00:00 [accepted]
PHST- 2022/01/04 05:40 [entrez]
PHST- 2022/01/05 06:00 [pubmed]
PHST- 2022/01/06 06:00 [medline]
PHST- 2022/01/03 00:00 [pmc-release]
AID - 10.1186/s12891-021-04952-9 [pii]
AID - 4952 [pii]
AID - 10.1186/s12891-021-04952-9 [doi]
PST - epublish
SO  - BMC Musculoskelet Disord. 2022 Jan 3;23(1):3. doi: 10.1186/s12891-021-04952-9.