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Association study of MMP8 gene in osteoarthritis

Annu Näkki1,2,3,4, Cristina Rodriguez-Fontenla5, Antonio Gonzalez5

  • 1a Institute for Molecular Medicine Finland FIMM, University of Helsinki , Helsinki , Finland.

Connective Tissue Research
|November 19, 2015
PubMed
Abstract

Insights

Genetic variants in MMP8 and MMP9 were investigated for their role in osteoarthritis (OA) risk. While one variant showed initial promise, further studies did not confirm a significant association, suggesting common variants in these genes may not be major OA risk factors.

Area of Science:

  • Genetics
  • Rheumatology
  • Molecular Biology

Background:

  • Osteoarthritis (OA) is a prevalent degenerative joint disease, particularly in the elderly.
  • Matrix metalloproteinases (MMPs), including MMP8 and MMP9, are implicated in cartilage degradation in OA.
  • Understanding the genetic contribution to OA is crucial for developing effective prevention and treatment strategies.

Purpose of the Study:

  • To investigate whether common genetic variants in the MMP8 and MMP9 genes contribute to the risk of developing osteoarthritis.
  • To analyze the association of specific single-nucleotide polymorphisms (SNPs) with knee and hand OA.

Main Methods:

  • A discovery cohort of 185 knee OA cases and 895 controls was analyzed for 13 common tagging SNPs.
  • Replication analysis involved two knee OA and two hand OA cohorts, totaling 1369 OA cases and 4445 controls.
  • Statistical analysis included the chi-squared test and Cochran-Mantel-Haenszel test for meta-analysis using Plink.

Main Results:

  • A suggestive association was found for the rs1940475 SNP in the MMP8 gene within the discovery cohort (p=0.005).
  • Replication cohorts did not show statistically significant association, although a similar trend for the predisposing allele was observed.
  • Meta-analysis of all cohorts yielded a significant p-value (0.027) for rs1940475, but with a protective effect (OR=0.904).

Conclusions:

  • The study identified a suggestive association between MMP8 rs1940475 and knee OA, but this finding lacked replication in independent cohorts.
  • Despite the consistent trend, common variants in MMP8 and MMP9 were not found to have a significant association with OA risk in this study.
  • MMP-8 remains a plausible biological candidate for OA, but further research may be needed to explore less common variants or other genetic mechanisms.
Keywords:
Associationgenematrix metalloproteinase 8osteoarthritis

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