Issue: 2026, Vol. 31, No. 3

I. N. Fetisova, A. V. Smirnova, N. S. Fetisov, V. V. Polunovsky, I. S. Kolesnikova, M. S. Savelyeva, D. P. Perova

GENETIC RISK FACTORS FOR THE DEVELOPMENT OF PELVIC FLOOR DYSFUNCTION

Keywords

pelvic floor dysfunction, gene, polymorphism, collagen, elastin, matrix metalloproteinase 1

Abstarct

Pelvic floor dysfunction is a complex impairment of the function of muscles, ligaments, and fascia that support the pelvic organs in their anatomically correct position. Pelvic floor dysfunction is a multifactorial pathology, as its development is determined by the combined action of many causes, including hereditary predisposition. Objective – to assess the genotype features of women with pelvic floor dysfunction in the genes for type 1 collagen, elastin, and matrix metalloproteinase 1. Materials and Methods. The study included 43 female patients of reproductive age who underwent real-time polymerase chain reaction analysis of polymorphisms in the loci of type 1 collagen COL1A1 G2046T (rs1800012), elastin ELN A28197G (rs7787362), and matrix metalloproteinase 1 MMP-1 1G/2G (rs1799750). Using the Pelvic Floor Distress Inventory Questionnaire, the presence of symptoms of pelvic organ prolapse and impaired bladder and bowel function was assessed. Based on the survey results, two groups were formed: the main group consisted of 28 patients with signs of dysfunction; the control group consisted of 15 women without symptoms of pelvic floor dysfunction. Results and Discussion. In the main group, colorectal-anal symptoms (CRAD-8) were noted in 22 (78.6 %) patients, urinary incontinence symptoms (UDI-6) were present in 18 (64.3 %), and signs of pelvic organ prolapse (POPDI-6) were observed in 10 (35.7 %). Gene and genotype frequencies in the type 1 collagen locus were comparable in women of both groups. In the elastin gene, the frequency of the 28197G polymorphism in women with manifestations of pelvic floor dysfunction (57.14%) significantly exceeded that in the control group (33.33%, p = 0.018). The homozygous presence of the functionally weakened allelic variant in patients with pelvic floor dysfunction was observed significantly more often than in women without its manifestations (35.71 and 13.33 %, respectively, p = 0.059). The total indicator of hetero- and homozygous carriage of the negative allele in the elastin gene in women of the main group significantly exceeded this indicator in the control group (78.57 and 53.33 %, respectively, p = 0.043). In the matrix metalloproteinase 1 locus, the polymorphic variant determining increased gene expression was noted significantly more often in patients with pelvic floor dysfunction than in women of the control group (58.92 and 23.33 %, respectively, p = 0.001). Among healthy women, 10 out of 15 (66.67 %) were homozygous for the wild-type allele, whereas in the main group, only 3 out of 28 patients (10.71 %, p = 0.001) had this genotype. The frequency of heterozygous carriage of the negative polymorphism in patients with pelvic floor dysfunction was three times higher than that in women without its signs (60.71 and 20.0 %, respectively, p = 0.005). Conclusion. Early detection of molecular genetic predictors of pelvic floor dysfunction development will allow for the timely formation of a risk group for this pathology. Timely targeted intervention in girls and women with a genotypic predisposition will allow, if not completely avoiding the development of the pathology, then delaying its manifestation in time and weakening the severity of symptoms.

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