title: Mutation screen of LOXL1 in patients with female pelvic organ prolapse.
abstract: OBJECTIVE
  The LOXL1 (lysyl oxidase-like 1) gene encodes a copper-dependent monoamine oxidase that catalyzes the deamination of a lysine residue in the cross-linking of tropoelastin monomers to form elastin. LOXL1-KO mice do not deposit normal elastic fibers in their genitourinary tract resulting in postpartum pelvic organ prolapse and lower urinary tract dysfunction with decreased bladder capacity and lower voiding pressure. We sought to identify which single nucleotide polymorphisms in the LOXL1 coding sequence play a role in female pelvic organ prolapse.
  
  
  METHODS
  A total of 66 patients were screened, 48 in the case group and 18 in the control group. The 7 exons of LOXL1 were evaluated for any polymorphisms.
  
  
  RESULTS
  Three missense sequence changes (Arg141Leu, Gly153Asp, and Ser159Ala) and 3 silent mutations (Asp292Asp, Ala320Ala, and Ile521Ile) were identified. None of these polymorphisms were found to differ significantly in frequency in the case group compared with the control group.
  
  
  CONCLUSIONS
  Our findings do not support an association of any LOXL1 exonal single nucleotide polymorphisms with the diagnosis of female pelvic organ prolapse.
authors.affiliation: From the *Urology Institute, University Hospitals Case Medical Center; †Department of Urology, Case Western Reserve University School of Medicine; ‡Cole Eye Institute, and §Glickman Urological Institute, Cleveland Clinic, Cleveland, OH.
authors.forename: Ruel
authors.initials: R
authors.lastname: Neupane
authors.forename: Zhina
authors.initials: Z
authors.lastname: Sadeghi
authors.forename: Rao
authors.initials: R
authors.lastname: Fu
authors.forename: Stephanie A
authors.initials: SA
authors.lastname: Hagstrom
authors.forename: Courtenay K
authors.initials: CK
authors.lastname: Moore
authors.forename: Firouz
authors.initials: F
authors.lastname: Daneshgari
mesh_terms: D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D056887:Pelvic Organ Prolapse / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human