Screening for high risk patients of pelvic organ prolapse focused on polymorphisms of collagen and early intervention by pelvic floor rehabilitation

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K13057
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Rehabilitation science/Welfare engineering
• Research Institution: University of the Ryukyus
• Principal Investigator: Ashikari Asuka 琉球大学, 医学部附属病院, 助教 (80768599)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 骨盤臓器脱 / 遺伝子多型 / コラーゲン / エラスチン / 女性骨盤底

Outline of Final Research Achievements

Cause of pelvic organ prolapse (POP) is well known for acquired risk factor (e.g. parity, age and obesity), however we focused on genetic risk factor of POP that has been reported in European and American populations. Collagen and elastin are main structures of female pelvic tissues. So we investigated whether single nucleotide gene polymorphisms (SNP) of collagen type I alpha 1 (COL1A1), collagen type III alpha 1 (COL3A1) and lysyl oxidase-like (LOXL)-1/4 were associated with the onset of POP in Japanese women. We investigated each genotype of the SNPs by using TaqMan SNP genotyping assay. The polymorphism of LOXL-4, an enzyme which is essential for extracellular matrix remodeling, had relationship to the onset of POP in Japanese women(Odds ratio 3.8-4.5). The knowledge of acquired risk factors and this kind of genomic background in patients with POP would help to improve surgical indications or to prevent POP by earlier conservative interventions.

Free Research Field

泌尿器科

Academic Significance and Societal Importance of the Research Achievements

骨盤臓器脱は中高年女性において約10人に1人発生と言われ、よくある疾患である。しかし羞恥心やあまり知られていない疾患であることから医療機関の受診が遅れがちである。早期介入で発症の予防や症状の改善が十分期待でき、介入すべき女性のスクリーニングとして血液検査で遺伝子多型を調べ、「骨盤臓器脱が起こりやすい体質」を見抜き発症予防や早期治療介入につなげることが可能になると考える。それにより500万人いると推定される骨盤臓器脱の中高年女性の生活の質（QOL）の改善に寄与し、その意義は大きい。