Genetic Factors of Comorbidity of Pelvic Organ Prolapse, Stress Urinary Incontinence, and Chronic Venous Insufficiency of the Lower Limbs in Women

Abstract

A genetic association study was carried out to test for a correlation between polymorphic variants of genes involved in the organization of elastic fibers (FBLN5, LOXL1, ELN, and FBN1) and multiple forms of connective tissue (CT) pathology, including pelvic organ prolapse (POP), stress urinary incontinence (SUI), and chronic venous insufficiency of the lower limbs (CVI). The FBLN5 haplotype rs12586948(A)-rs2284337(A)-rs2430347(A)-rs2430369(C), associated with a high risk for each of the studied CT disorders, was identified. For SUI and POP, common risk FBLN5 haplotype rs12586948(A)-rs2284337(A)-rs2430347(A)-rs2498841(G)-rs2018736(C)-rs2430369(C)-rs2245701(G) was detected. These allele groups, as well as the LOXL1 haplotype rs2165241(C)-rs2304719(T)-rs2415231(C), correlated with an increase in the number of coexisting connective tissue pathologies (POP, SUI, and CVI). Thus, an association between the FBLN5 and LOXL1 haplotypes and the CT disease comorbidity was identified.

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