An elucidation of the genetic factors among infertile women who may exhibit abnormalities during meiosis

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K09620
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56040:Obstetrics and gynecology-related
• Research Institution: Okayama University
• Principal Investigator: Otsuki Junko 岡山大学, 生殖補助医療技術教育研究センター, 准教授 (00573031)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: 体外受精 / 減数分裂 / 遺伝子変異 / 不妊 / 生殖医療

Outline of Final Research Achievements

Approximately 20% of infertility is idiopathic, and many patients remain infertile, experiencing recurrent failures in assisted reproductive technology (ART). This study aimed to explore genetic mutations that may be associated with repeated ART failures in women. The study found that the allele frequencies of ADAM33, CEP89, CRIPAK, PDZRN3, RAET1E, and SPATA31A3 in the patients were significantly lower than those in 8.3KJPN. Additionally, the calculated Hardy-Weinberg equilibrium of ADAM33, CEP89, OR2T29, OR52J3, RABL2A, RNF17, SPATA31C1, and WWTR1 in these patients were significantly lower than those in the Human Genetic Variation Database. These findings may provide potential diagnostic markers for patients with recurrent ART failures and help us understand the genetic basis of female infertility.

Free Research Field

生殖医学、遺伝学

Academic Significance and Societal Importance of the Research Achievements

卵成熟機構には未解明の部分が存在し、不妊原因が卵の異常に起因する場合には現在の医療では治療できないことが多い。卵成熟過程にはさまざまな遺伝子や分子が関与しており、これらの関連する遺伝子の異常が雌性不妊を惹起することが近年の研究により明らかになってきている。遺伝子変異が原因の場合、体外受精を行っても妊娠に至ることはほぼ不可能であり、実際、10回を超える体外受精を繰り返し行うも妊娠できない患者は少なくなく、金銭面のみならず精神面の負担も非常に大きい。本研究結果は原因不明不妊原因の一部が明らかとなり、その学術的意義は大きいだけでなく、将来的な不妊症の治療法開発にも貢献することが期待される。