Matrix Metalloproteases 8 Polymorphism as Risk Factor for Rotator Cuff Tear

Area of Science:

• Orthopedics
• Genetics
• Biochemistry

Background:

• Rotator cuff tear (RCT) is a common condition often linked to increased collagen degradation.
• Matrix metalloproteinase-8 (MMP-8) plays a role in type I collagen breakdown.
• A specific polymorphism in the MMP-8 gene promoter (g.-799 C>T) is known to enhance its transcription activity.

Purpose of the Study:

• To investigate the association between the MMP-8 g.-799 C>T polymorphism (rs11225394) and the risk of developing rotator cuff tears.

Main Methods:

• DNA samples were collected from 128 participants (RCT and control groups, 1:1 ratio).
• Genotyping of the MMP-8 polymorphism was performed using PCR.
• Statistical analysis included ARLEQUIN Version 2.0 and the Shapiro-Wilk test for data normality.

Main Results:

• A significantly higher frequency of the T/T genotype for the MMP-8 g.-799 C>T polymorphism was observed in the RCT group (39%) compared to the control group (29%).
• The p-value for this association was 0.0417.
• This genotype is suggested to be a risk factor for increased collagen degradation.

Conclusions:

• The MMP-8 g.-799 C>T (rs11225394) single nucleotide polymorphism (SNP) is associated with rotator cuff tears.
• This study identifies a novel genetic risk factor for RCT.
• Further research can explore preventative measures and novel therapeutic strategies for RCT.