ROLE OF COL1A1 AND G2046T GENES IN UZBEKS WITH JUVENILE DYSMENORRHEA IN THE PRESENCE OF CRITERIA FOR UNDIFFERENTIATED CONNECTIVE TISSUE DYSPLASIA

Abstract

Clinical and genetic examination of 118 girls was conducted, with signs of connective tissue dysplasia (СTD) - 64 and without it - 54, the control group consisted of 68 healthy girls with normal menstruation. The basis for the diagnosis of dysmenorrhea was a complaint of painful menstruation. An analysis of the distribution of allelic variants of the COL1A1 G2046T gene showed that in the group of patients with juvenile disease accompanied by СTD significantly higher compared with the control group of practically healthy individuals, only a tendency toward the reliability of alleles was observed, but they did not reach true significance. The study of the association of the COL1A1 G2046T genotype showed a significant increase in the mutant TT genotype in the group of girls with juvenile disease with СTD, compared with practically healthy individuals. Therefore, the single nucleotide variant of COL1A1 G2046T plays a role in the pathogenesis of the development of juvenile disease accompanied by СTD. This is indirectly confirmed by the indicators of oxyproline, an increase in which was significant both in comparison with practically healthy individuals and in comparison with a group of patients with juvenile disease without signs of СTD, suggests that this polymorphism is only one of the polymorphisms involved in the pathogenesis of the studied pathology. Based on the foregoing, we can conclude that the occurrence of the mutant allele of the estrogen receptor gene - alpha (single nucleotide replacement of guanine with adenine in rs2228480) is 1.9 times higher in the group of girls with juvenile dysfunction with СTD than in the group of juvenile dysfunction with СTD (χ2 = 4.515; p = 0.03). A significant difference was also found in the frequency of occurrence of type I collagen gene polymorphism (single nucleotide replacement of guanine with thymine in rs1800012) was found in girls with juvenile disease with СTD only in comparison with a group of healthy individuals (χ2 = 4.71; p = 0.03).