title: COL3A1 2209G>A is a predictor of pelvic organ prolapse.
abstract: OBJECTIVE
  A familial tendency has been demonstrated in the etiology of pelvic organ prolapse (POP), but the specific genetic defects have not been identified. Type III collagen is an important factor in the repair of connective tissue, and gene polymorphisms may impair the tensile strength. We hypothesized that polymorphisms in the alpha I chain of the type III collagen protein-encoding gene (COL3A1) pose women at risk for POP.
  
  
  METHODS
  In this case-control study, the prevalence of type III collagen polymorphisms was compared in women with and without signs and symptoms of POP.
  
  
  RESULTS
  Two hundred and two POP patients and 102 normal parous controls were included. A homozygous single-nucleotide substitution in the coding region of type III collagen (COL3A1 2209G>A, rs1800255) was identified in 27 (13%) POP patients and three (3%) controls (odds ratio, 5.0; 95% confidence interval, 1.4-17.1).
  
  
  CONCLUSIONS
  The probability of POP was higher in women with COL3A1 2209G>A. This polymorphism showed to be a relevant risk factor for POP.
authors.affiliation: Department of Obstetrics and Gynecology (791), Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. K.Kluivers@obgyn.umcn.nl
authors.forename: Kirsten B
authors.initials: KB
authors.lastname: Kluivers
authors.forename: Jeroen R
authors.initials: JR
authors.lastname: Dijkstra
authors.forename: Jan C M
authors.initials: JC
authors.lastname: Hendriks
authors.forename: Sabrina L
authors.initials: SL
authors.lastname: Lince
authors.forename: Mark E
authors.initials: ME
authors.lastname: Vierhout
authors.forename: Léon C L
authors.initials: LC
authors.lastname: van Kempen
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D024061:Collagen Type III / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D014596:Uterine Prolapse / Q000235:genetics*
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III