Association of polymorphism -1171 5A/6A of the matrix metalloproteinase gene type 3 (rs35068180) with dilated cardiomyopathy

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The paper describes the investigation of matrix metalloproteinase type 3 (MMP-3) -1171 5A/6A gene polymorphic allele’s variants (rs35068180) in patients with dilated cardiomyopathy. A allele and 6А6А genotype of MMP-3 -1171 5A/6A gene (rs35068180) were determined as new genetic predictors of dilated cardiomyopathy development.

Aim. To study the association of polymorphism -1171 5A/ of the MMP-3 gene with dilated cardiomyopathy of various origins.

Material and methods. The main study group comprised 221 patients with dilated cardiomyopathy (DCM) of different origin. Their average age was 55.30±9.69 years. Among them there were 111 persons with DCM of ischemic origin, including 99 (89.2%) men and 12 (10.8%) women. The average age of the subjects with DCM was 51.73±9.74 years, the age of the male subgroup was 51.00±8.96 years, and the age of the female subgroup was 57.75±3.71 years. A total of 110 patients with idiopathic cardiomyopathy were included in the study. Among 221 patients, 110 persons did not demonstrated idiopathic dilated cardiomyopathy as the cause of myocardium dilation. This group comprised 100 (91.5%) male patients and 10 (8.5%) female patients. The control group of subjects (221 persons) was represented by healthy people without diseases of the cardiovascular system. The average age of control subjects was 53.6±4.8 years. We examined all patients in the main group using routine laboratory and instrumental methods, as well as coronary angiography. If myocarditis was suspected, we did an MRI of the heart. Genotyping of polymorphism -1171 5A/6A (rs35068180) of the MMP-3 gene was performed using PCR.

Results. Among patients of the main group with dilated myocardial remodeling of various Genesis, the allele was documented in 65.8% of cases against 59.3% among the control group, p=0.044. The homozygous genotype of the MMP-3 gene in patients of the main group was verified in 42.1% of patients against 32.6% of cases in relatively healthy individuals (p=0.099).

Conclusion. We have proved the predominance of 6A allele and 6А6А genotype of the MMP-3 gene in the group of patients with DCM. It seems that it is homozygous 6A allele that causes a decrease in the activity of the transcription process and change in the level of stromelysin in arterial walls. This contributes to the activation of type 1 procollagenase, extracellular matrix deposition and cardiac muscle remodeling.

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About the authors

Oxana O. Kuznetsova

Voino-Yasenetsky Krasnoyarsk State Medical University


Russian Federation

Cand. Sci. (Med.)

Svetlana Yu. Nikulina

Voino-Yasenetsky Krasnoyarsk State Medical University

Author for correspondence.

Russian Federation

D. Sci. (Med.)

Anna A. Chernova

Voino-Yasenetsky Krasnoyarsk State Medical University


Russian Federation

D. Sci. (Med.)

Vladimir N. Maksimov

Voino-Yasenetsky Krasnoyarsk State Medical University; 2Institute of Internal and Preventive Medicine – a branch of the Federal Research Center Institute of Cytology and Genetics


Russian Federation

D. Sci. (Med.)


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