title: Fibulin-5 (FBLN5) gene polymorphism is associated with pelvic organ prolapse.
abstract: OBJECTIVE
  FBLN5 encodes a key protein of elastic fiber matrix assembly and function that contributes to maintaining pelvic support and plays the important role in the pathophysiology of pelvic organ prolapse (POP). The aim of the study was to investigate whether there is an association between common single-nucleotide polymorphisms (SNPs) of the FBLN5 gene and POP.
  
  
  METHODS
  A total of eleven tag SNPs of the FBLN5 gene were genotyped using the polymerase chain reaction with confronting two-pair primers (PCR-CTPP) in 210 patients with POP (stages III-IV) and 292 controls with no even minimal POP.
  
  
  RESULTS
  We revealed significant associations of tag SNPs rs2018736 and rs12589592 with POP. The top association signal was found for SNP rs2018736 (protective effect for the minor allele A) in the entire set: p=0.0026, OR=0.42, 95% CI: 0.24-0.75; in the stratum with pelvic floor trauma: p=0.0018, OR=0.27, 95% CI: 0.11-0.64; and in the stratum with fetal macrosomia: p=0.013, OR=0.14, 95% CI: 0.03-0.71. The results of the haplotype analyses were consistent with the single SNP analysis. In the strata without perineal trauma and fetal macrosomia effects were non-significant, possibly, due to the smaller effect sizes.
  
  
  CONCLUSIONS
  Current data provide, for the first time, strong evidence that common SNPs of the FBLN5 gene are associated with POP especially after pelvic floor injury.
authors.affiliation: N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, 3 Gubkin Street, Moscow 117971, Russia.
authors.forename: Maryam B
authors.initials: MB
authors.lastname: Khadzhieva
authors.affiliation: Pirogov Russian National Research Medical University, Department of Obstetrics and Gynecology No.1, 1 Ostrovitianov Street, Moscow 117997, Russia.
authors.forename: Svetlana V
authors.initials: SV
authors.lastname: Kamoeva
authors.affiliation: N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, 3 Gubkin Street, Moscow 117971, Russia.
authors.forename: Anastasya G
authors.initials: AG
authors.lastname: Chumachenko
authors.affiliation: Pirogov Russian National Research Medical University, Department of Obstetrics and Gynecology No.1, 1 Ostrovitianov Street, Moscow 117997, Russia.
authors.forename: Anastasya V
authors.initials: AV
authors.lastname: Ivanova
authors.affiliation: N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, 3 Gubkin Street, Moscow 117971, Russia.
authors.forename: Ilya V
authors.initials: IV
authors.lastname: Volodin
authors.affiliation: Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, The Russian Ministry of Health and Social Development, 1 Samora Machel Street, Moscow 117198, Russia.
authors.forename: Ivan S
authors.initials: IS
authors.lastname: Vladimirov
authors.affiliation: N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, 3 Gubkin Street, Moscow 117971, Russia.
authors.forename: Serikbay K
authors.initials: SK
authors.lastname: Abilev
authors.affiliation: N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, 3 Gubkin Street, Moscow 117971, Russia; Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, The Russian Ministry of Health and Social Development, 1 Samora Machel Street, Moscow 117198, Russia. Electronic address: salnikovalyubov@gmail.com.
authors.forename: Lyubov E
authors.initials: LE
authors.lastname: Salnikova
mesh_terms: D000368:Aged; D000483:Alleles; D002135:Calcium-Binding Proteins; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D056887:Pelvic Organ Prolapse / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D002135:Calcium-Binding Proteins; D016326:Extracellular Matrix Proteins; C492373:FBLN5 protein, human; C060820:fibulin
keywords: FBLN5; Pelvic floor trauma; Pelvic organ prolapse; Tag SNPs