MMP-1 promoter genotype and haplotype association with posterior tibial tendinopathy.

PURPOSE: Posterior tibial tendon (PTT) is particularly vulnerable and its insufficiency is recognized as the main cause of adult acquired flatfoot. Some patients have a predisposition without clinically recognized cause, suggesting that individual characteristics play an important role in tendinopathy. The objective of the present study is to investigate the association of -519 (rs1144393) matrix metalloproteinase-1 (MMP-1) polymorphism and the -1607 (rs1799750) and -519 MMP-1 haplotypes and risk of PTT dysfunction. METHODS: The test group included 50 females who presented PTT dysfunction Grade 2 or 3, and who were submitted to surgical treatment, with histopathological examination of the tendon and magnetic resonance image (MRI) confirming tendinopathy, while the control group was 100 asymptomatic women who present intact PTT at MRI. We analyzed functional polymorphisms MMP-1 and their haplotypes using polymerase chain reaction and restriction fragment length analysis. RESULTS: There was a significant difference in the presence of the different alleles and genotypes between the control group and test group for the MMP-1 gene (p≤0.01). The G allele of the -519 MMP-1 polymorphism increased susceptibility to degeneration in the PTT tendon and seems to be a genetic risk factor. Global haplotype analysis indicated a significant difference between both groups (p<0.0001). Haplotypes G-2G and A-2G had statistically significant risk effect on PTT insufficiency. G-2G, p<0.001; OR=5.72 (CI, 2.84-11.52) and A-2G p=0.002, OR=3.95 (CI, 1.65-9.44). CONCLUSION: According to our results, -519 MMP-1 isolated and -1607/-519 MMP-1 haplotypes are associated to tendinopathy in posterior tibial tendon.

MMP-8 polymorphism is genetic marker to tendinopathy primary posterior tibial tendon.

Posterior tibial tendon is particularly vulnerable and is responsible for much morbidity in sportspersons. Some patients have a predisposition without a clinically recognized cause, suggesting that individual characteristics, inclusive genetic inheritance, play an important role in tendinopathy. Matrix metalloproteinase (MMP)-8 is a proteinase capable of degrading a large amount of extracellular proteins, and influence degradation and remodeling of collagen. To determine whether the -799 polymorphism in the promoter of MMP-8 gene is associated with tendinopathy in posterior tibial tendon, 50 patients undergoing surgical procedures and anatomopathological diagnosis of degenerative lesions of the posterior tibial tendon and 100 control patients with posterior tibial tendon integrity and without signs of degeneration in magnetic resonance imaging were evaluated for the -799 MMP-8 polymorphism. There was a significant difference in the presence of the different alleles (P = 0.001) and genotype (P = 0.003) between the control group and the test group for the MMP-8 gene. The polymorphism at position -799 of the gene for MMP-8 is associated with tendinopathy primary posterior tibial tendon in the population studied. The results suggest that individuals with the T allele are at greater risk of developing tendinopathy.