Evaluation of COL1A1 gene rs1800012 polymorphism and non-differentiated connective tissue dysplasia as predictors of pelvic organ prolapse

The article presents data on the association of the rs1800012 polymorphism of the procollagen type I alpha (α) 1 COL1A1 gene and the stigma of non-differentiated connective tissue dysplasia with the development of vaginal prolapse in the Ukrainian population.The objective: to determine the prognostic significance of the rs1800012 polymorphism of the procollagen type I alpha (α) 1 COL1A1 gene and the clinical and anamnestic stigmata of non-differentiated connective tissue dysplasia as factors associated with the development of vaginal prolapse in the Ukrainian population.Materials and methods. In order to achieve the research aim, polymorphism in the rs1800012 locus of the COL1A1 gene was studied by polymerase chain reaction in venous blood samples of 120 women. The main group included 60 patients with vaginal prolapse III, IV, who had indications for surgical correction; to the comparison group – 60 women without pelvic floor dysfunction.The diagnostic algorithm included a physical examination, taking the general and gynecological history, evaluation of the state of the pelvic floor and urogenital dysfunction. The severity of pelvic floor prolapse was assessed based on the Pelvic Organ Prolapse Quantification (POP-Q) classification.Results. During the analysis of clinical and anamnestic data in women of both research groups, concomitant pathology with a possible connection with signs of non-differentiated connective tissue dysplasia was identified as risk factors for the development of pelvic floor dysfunction: 37 people in the main group versus 21 patients in the comparison group (χ2=8.5428; p=.003469).The prevalence of rs1800012 polymorphism of the gene procollagen type I alpha (α) 1 COL1A1 in the homozygous variant (TT) in this study was found in the main group in 8 samples (13.33%) and only in 2 (3.33%) – in the comparison group. The presented polymorphism in the heterozygous variant (GT) in the main group was determined in 19 samples (31.67%) and only in 12 (20.00%) – in the comparison group (χ2=7.3199; p=.025734).Conclusions. The association of the rs1800012 polymorphism in the COL1A1 gene (p=.025734) and clinical and anamnestic stigmata of non-differentiated connective tissue dysplasia (NDST) (p=.003469) with the development of pelvic organ prolapse was established, which is evidence of the importance of genetic changes and connective tissue remodeling in the etiology of genital prolapseThe presence of NDST stigma increases the risk of pelvic organ prolapse by 3 times (OR=3.788; 95% CI: 1.664–8.624), polymorphism rs1800012 in the COL1A1 gene – by 2 times with the heterozygous variant (OR=2.400; 95% CI: 1.230–6.633) and 3 times with the homozygous variant (OR=3.275; 95% CI: 1.300–19.969).