Mutation Screen of LOXL1 in Patients With Female Pelvic Organ Prolapse

作者：Neupane Ruel; Sadeghi Zhina; Fu Rao; Hagstrom Stephanie A; Moore Courtenay K; Daneshgari Firouz^*

来源：Female Pelvic Medicine and Reconstructive Surgery, 2014, 20(6): 316-321.

DOI：10.1097/SPV.0000000000000108

• LOXL1
• female pelvic organ prolapse
• urinary incontinence

Objectives: 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 genito-urinary 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. %26lt;br%26gt;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. %26lt;br%26gt;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. %26lt;br%26gt;Conclusions: Our findings do not support an association of any LOXL1 exonal single nucleotide polymorphisms with the diagnosis of female pelvic organ prolapse.

• 出版日期2014-12