Association of polymorphism of 1800255 COL3A1 gene with pelvic organ prolapse and urinary incontinence in women: preliminary data

• Published in: Urologii͡a︡ (Moscow, Russia : 1999) no. 6; p. 30
• Main Authors: Kasyan, G R, Vishnevskii, D A, Akulenko, L V, Kozlova, Yu O, Sharova, E I, Tupikina, N V, Pushkar', D Yu
• Format: Journal Article
• Language: Russian
• Published: Russia (Federation) 01.12.2017
• Subjects: Adult; Aged; Collagen Type III - genetics; Female; Humans; Middle Aged; Pelvic Organ Prolapse - genetics; Pelvic Organ Prolapse - pathology; Pelvic Organ Prolapse - physiopathology; Polymorphism, Genetic; Urinary Incontinence - genetics; Urinary Incontinence - pathology; Urinary Incontinence - physiopathology; collagen; polymorphism; genetics; pelvic organ prolapse in women; urinary incontinence
• ISSN: 1728-2985

Collagen type I and III have a significant role in the development of pelvic organ prolapse (POP) and urinary incontinence in women. The role of the COL3A1 gene polymorphism remains debatable. Some studies and meta-analyzes have found a direct correlation between genetic defects and POP, while other researchers have not confirmed this association. This study aimed to investigate the association of the 1800255 COL3A1 gene polymorphism with the development of POP and urinary incontinence in women. The study group comprised 52 patients (mean age 64.4 years) with verified POP and stress urinary incontinence. The control group included 21 patients without pelvic floor dysfunction. Patients were comparable in age and had at least one or more risk factors for developing pelvic floor dysfunction. Exclusion criteria for both groups were Marfan and Ehlers-Danlos syndromes and a history of surgery for POP or incontinence (for the control group). In all women, saliva samples were collected to detect polymorphism at the rs1800255 locus of the COL3A1 gene. Genotyping was conducted by Sanger sequencing. In patients with isolated genital prolapse, homozygous polymorphism (AA) had a low sensitivity (0.06) but an extremely high specificity (0.95). Heterozygote (GA) had the sensitivity of 0.35, the specificity of 0.53, and the AUC of 0.44. For urinary incontinence by homozygote (AA), sensitivity was 0.08, specificity 0.96, and by heterozygote (GA) 0.45 and 0.63, respectively. For the combination of pelvic prolapse and urinary incontinence by homozygote (AA), sensitivity was 0.07, specificity 1.0, and heterozygote (GA) 0.41 and 0.62, respectively. Given the high specificity of the polymorphism at the rs1800255 locus of the COL3A1 gene, determined by the Sanger sequencing, it can be concluded that there is an association between this polymorphism and urinary incontinence and POP in women.