Developments of sperm recovery prediction system by micro-TESE using next-generation sequencer

2020 Fiscal Year Final Research Report

• Project/Area Number: 19K22762
• Research Category: Grant-in-Aid for Challenging Research (Exploratory)
• Allocation Type: Multi-year Fund
• Review Section: Medium-sized Section 58:Society medicine, nursing, and related fields
• Research Institution: The University of Tokushima
• Principal Investigator: SATO Youichi 徳島大学, 大学院医歯薬学研究部(薬学域), 教授 (10363160)
• Project Period (FY): 2019-06-28 – 2021-03-31
• Keywords: 男性不妊症 / 非閉塞性無精子症 / 次世代シーケンス / micro-TESE / 機械学習

Outline of Final Research Achievements

The purpose of this study was to develop the sperm recovery prediction system using micro-TESE. Among the variants obtained by whole exome sequence analysis, we investigated variants with an allele frequency of 1% or less that affect protein function, which are not found in healthy subjects. It did not reach the development of sperm recovery prediction system. However, we found a gene variant suggesting a novel sperm recovery predictor. On the other hand, as a result of examining the upper variants obtained from the genome-wide association study, the accuracy rate was the highest when 3 variants on the gene expressed specifically in the testis were used. In the future, it is expected that a more reliable sperm recovery prediction system will be developed by increasing the number of cases.

Free Research Field

遺伝医学

Academic Significance and Societal Importance of the Research Achievements

ゲノム情報を用いた機械学習はmicro-TESEによる精子回収予測システムの開発に期待できることを示した。少子化対策が焦眉の課題となる現代社会において、妊娠を望んでいる夫婦の6組に1組は不妊で悩んでいる。本研究により構築したmicro-TESEによる精子回収予測システムが応用されれば、精子回収の見込みの無いmicro-TESEの回避につながり、患者の精神的、身体的、経済的負担の軽減が期待される。