Genetic Analysis of Matrix Metalloproteinases Gene Polymorphisms in Patients with Hereditary Connective Tissue Diseases

Svetlana E. Govorova, Maria V. Vershinina, Galina I. Netchaeva, Lev M. Grinberg

¹Omsk State Medical Academy, Omsk, Russia,²Ural State Medical Academy, Yekaterinburg, Russia

*Corresponding author: Maria V. Vershinina, MD, Omsk State Medical Academy, 3-10 Dobrovolskiy str., Omsk, Russia. Tel/Fax 7-3812-236700 E-mail:


Background: Hereditary connective tissue diseases belong to a heterogeneous group of genetic conditions, associated with the pathology of extracellular matrix fibers. Signs of weakness in the connective tissue are diagnosed in 10—30% of the population, although they do not meet the strict criteria of genetic syndromes, such as Marfan’s Syndrome. The genetic defect of these patients is unknown in most cases.

Methods: Volunteers with signs of weakness of the connective tissue (n=82) and apparently healthy ones (n=70) were included and examined. The frequency of polymorphisms in the genes MMP1 (1607insG), MMP9 (C-1562T), MMP12 (A-82G), TIMP1 (S536T) were analyzed to identify alleles and genotypes associated with hereditary connective tissue diseases.

Results: The frequency of the mutant allele GG/GG of the MMP1 and mutant allele T of the MMP9 were significantly longer in patients with signs of weakness of the connective tissue. No statistically significant differences were noted in the genes MMP12 and TIMP1 between treatment groups.

Conclusion: The data in this study confirmed the need for further research to identify the genetic basis of inherited disorders of the connective tissue, for early screening and prevention.

matrix metalloproteinases; connective tissue.
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Int J Biomed. 2011; 1(3): 150-152. © 2011 International Medical Research and Development Corporation. All rights reserved.