Association of MMP-1 -1607 1G/2G (rs1799750) polymorphism with primary knee osteoarthritis in the Greek population.
Osteoarthritis is the most common form of arthritis with still unknown pathogenic etiology and considerable contribution of genetic factors. One of the mechanisms of cartilage degradation in osteoarthritis is enzymatic proteolysis of the extracellular matrix by metalloproteinases. MMP-1, produced by chondrocytes and synovial cells, is a major proteinase of the MMPs family. The present study aims at evaluating the association of MMP1 gene -1607 1G/2G (rs1799750) polymorphism with primary knee osteoarthritis in the Greek population. One hundred fifty five patients with primary symptomatic knee osteoarthritis participated in the study along with 139 controls. Genotypes were determined using PCR-RLFP technique. Allelic and genotypic frequencies were compared between both study groups. There was no significant association between MMP1 -1607 1G/2G polymorphism and knee osteoarthritis, in crude analysis; however, after multiple logistic regression analysis, 1G/2G was associated with reduced odds of knee osteoarthritis by 75% in males, compared to genotypes 1G/1G + 2G/2G, adjusting for age and BMI (adjusted OR: 0.25, 95% CI: 0.069, 0.910, p = 0.035). The present study shows that MMP1 -1607 1G/2G (rs1799750) polymorphism might be a risk factor for knee osteoarthritis susceptibility in the Greek population. Further investigations are needed to confirm this association in the pathogenesis of osteoarthritis.
2nd Department of Trauma and Orthopaedics, University of Athens Medical School, "Agia Olga" Hospital, 3-5 Ag. Olgas Street, 14233, Nea Ionia, Athens, Greece; Department of Medical Genetics, University of Athens Medical School, "Agia Sophia" Children's Hospital, Thivon and Levadias Str., 11527, Athens, Greece.
Panagiotis
P
Lepetsos
Andreas
A
Pampanos
Emmanouil
E
Kanavakis
Maria
M
Tzetis
Dimitrios
D
Korres
Athanasios G
AG
Papavassiliou
Nicolaos
N
Efstathopoulos
D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006115:Greece / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D008297:Male; D020781:Matrix Metalloproteinase 1 / Q000235:genetics*; D008875:Middle Aged; D020370:Osteoarthritis, Knee / Q000453:epidemiology / Q000208:ethnology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012044:Regression Analysis; D012307:Risk Factors
D020781:Matrix Metalloproteinase 1
MMP-1; gene; joint cartilage; knee osteoarthritis; single nucleotide polymorphism