Analysis of the Col1a1 Collagen Gene in Patients with Limited Scleroderma

Limited scleroderma - a chronic disease of connective tissue with a predominant lesion of the skin and the underlying tissues, characterized by the appearance of sclerosis foci against the background of inflammatory phenomena (erythema, edema) and the subsequent addition of atrophy and hypo / hyperpigmentation of the skin. The set of clinical material was produced at the Republican Specialized Scientific-Practical Medical Center of Dermatovenerology and Aesthetic Medicine. A total of 61 patients with OSD from 4 to 62 years of Uzbek ethnicity were examined. Of these, 22 (36.1 per cent) were men and 39 (63.1 per cent) were women. The control group included 58 practically healthy Uzbek donors from the NIIRPC of the Ministry of Health of Uzbekistan. Molecular genetic studies were carried out in the molecular genetics’ laboratory of the NIIRPC of the Ministry of Health. Statistically significant difference was revealed between patients with OSD and healthy donors by the allelic frequencies of the studied polymorphism (rs1107946) of COL1A1 gene (χ2=7.6; P=0.005; OR=2.3; 95%CI 1.269-4.319). A significant increase in the frequency of heterozygous genotype occurrence in patients with limited scleroderma compared to the control confirms the association of C/A polymorphism genotype (rs1107946) of COL1A1 gene with high risk of OSD formation (OR=2.4). Analysis of dependence of polymorphism distribution of rs1107946 of COL1A1 gene with the course of restricted scleroderma showed that linear form of restricted scleroderma is characteristic for wild (25%) and heterozygous (20%) types, frequency of occurrence of plaque form of disease gradually increases, was revealed in 70; 80 and 100% of patients with wild, heterozygous and mutations. Common foci of limited scleroderma were detected in 14.3; 40 and 60% of patients with the presence of wild, heterozygous and mutation genes. Significant protective effect of functionally favorable genotype A/A polymorphism (rs1107946) of COL1A1 gene for development of restricted scleroderma in Uzbek population is shown, it provokes severe course of disease with appearance of common foci, whereas allele C is prognostically favorable, preventing disease progression.