title: [Female pelvic floor dysfunction from the perspectives of genetic studies].
abstract: Currently, despite the growing prevalence of female pelvic floor dysfunction, no consensus exists among researchers regarding its etiology and pathogenesis. There is no doubt, however, that this is a multifactorial disorder with a genetic predisposition. The risk for developing pelvic floor dysfunction is determined by the interaction of multiple additive genetic (mutations and/or polymorphic alleles) and environmental factors. This review of the world literature presents a rationale for searching specific molecular genetic factors shaping the structure of the genetic susceptibility to female pelvic floor dysfunction. The pelvic organ prolapse in women has been found to be associated with the rs1800012 polymorphism of the COL1A1 gene, genotype rs1800255-A/A of COL3A1 gene and the rs2228480 polymorphism of ESR1, although this data still controversial and need to be validated in the independent samples. The systematic accumulation of data, their reproduction in different populations and ethnic groups is necessary to further generalize the evidence on the pathogenesis and the functional significance of each gene variant.
authors.affiliation: Department of Medical Genetics, of Moscow State University of Medicine and Dentistry named after A.I. Evdokimov, Moscow, Russia.
authors.forename: L V
authors.initials: LV
authors.lastname: Akulenko
authors.affiliation: Department of Urology of Moscow State University of Medicine and Dentistry named after A.I. Evdokimov, Moscow, Russia.
authors.forename: G R
authors.initials: GR
authors.lastname: Kasyan
authors.affiliation: Department of Medical Genetics, of Moscow State University of Medicine and Dentistry named after A.I. Evdokimov, Moscow, Russia.
authors.forename: Yu O
authors.initials: YO
authors.lastname: Kozlova
authors.affiliation: Department of Urology of Moscow State University of Medicine and Dentistry named after A.I. Evdokimov, Moscow, Russia.
authors.forename: N V
authors.initials: NV
authors.lastname: Tupikina
authors.affiliation: Department of Urology of Moscow State University of Medicine and Dentistry named after A.I. Evdokimov, Moscow, Russia.
authors.forename: D A
authors.initials: DA
authors.lastname: Vishnevsky
authors.affiliation: Department of Urology of Moscow State University of Medicine and Dentistry named after A.I. Evdokimov, Moscow, Russia.
authors.forename: D Yu
authors.initials: DY
authors.lastname: Pushkar
mesh_terms: D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D059952:Pelvic Floor Disorders / Q000235:genetics*; D011110:Polymorphism, Genetic
keywords: genetics; pelvic floor dysfunction; pelvic organ prolapse