Online ISSN: 2515-8260

Keywords : MMP1 gene


Analysis of the role 1G / 2G polymorphism Analysis of the role 1G / 2G polymorphism in the MMP1 gene development and clinical course of cervical intraepithelial neoplasia

I.A. Kamilova; J.E. Pakhomova; D.K. Nadjmutdinova

European Journal of Molecular & Clinical Medicine, 2020, Volume 7, Issue 2, Pages 850-859

In the present work, the frequency of occurrence of polymorphic variants 1607 1G / 2G (rs 1799750) of the MMP1 gene encoding enzymes of collagen metabolism and its genotypes in patients with cervical intraepithelial neoplasia and healthy women in Tashkent was first investigated. A statistically significant association of 2G allele carriage with a risk of developing CIN (χ² = 15.4; P≤0.001) and unreliable with carriage of the heterozygous genotype 1G / 2G (χ² = 1.36; P≥0.243) were established. In the control group of patients, a statistically significant predominance of the 1G allele (χ² = 29.4; P≤0.001) and the homozygous genotype 1G / 1G (χ² = 19.6; P≤0.001) was found. The highest values of the carriage of the 2G allele and homozygous genotype 2G / 2G were found at CIN and at CIN ΙΙΙ. Thus, the study of polymorphism rs 1799750 of the MMP1 gene is promising for predicting the course of cervical intraepithelial neoplasia and can be used to form risk groups for the development of this pathology.
The frequency distribution of alleles and genotypes of the polymorphic marker rs1799750 of the MMP1 gene in patients with CIN did not correspond to the canonical Hardy-Weinberg distribution due to an increase in the frequencies of homozygous genotypes and a decrease in the frequency of the heterozygous genotype; in the control group, the frequency distribution of alleles and genotypes of the polymorphic marker rs 1799750 of the MMP1 gene corresponded to the canonical Hardy-Weinberg distribution.