JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE) ›› 2021, Vol. 41 ›› Issue (10): 1277-1284.doi: 10.3969/j.issn.1674-8115.2021.10.001

• Innovative research team achievement column •     Next Articles

Research of key causative genes and associated pathway in infertility based on big data of biological medicine

Jia-le WEI1,2()(), Xin-yi LIU1,2, Shao-yong LU1,2, Xue-feng LU3(), Jian ZHANG1,2()   

  1. 1.Medicinal Bioinformatics Center, Shanghai Jiao Tong University College of Basic Medical Sciences, Shanghai 200025, China
    2.Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
    3.Department of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China
  • Online:2021-10-28 Published:2021-09-23
  • Contact: Xue-feng LU,Jian ZHANG;;
  • Supported by:
    National Natural Science Foundation of China(81925034);Innovative Research Team of High-Level Local Universities in Shanghai(SSMU-ZDCX20181202)

Abstract: Objective

·To mine regular patterns of mutation and associated causative genes through integrating big data from the perspective of genetic factors in infertility.


·A classification of causative genes collected in human infertility according to the protein category in the Universal Protein Resource (Uniprot) and statistics of mutation frequency in each kind of genes in clinical cases were made. The function and pathway of oxidoreductase with abnormal function, an important pathogenic factor, were analyzed, and related information was investigated. The mouse ortholog genes and pathogenic information of human steroid hormone biosynthesis were acquired from Mouse Genome Informatics (MGI) in order to evaluate potential genes after finding out regularity and analysis of gene interaction.


·It's commonest for oxidoreductase genes to be mutated in infertility-causative genes. The genes that mutated most easily seemed possibly to focus on the steroid hormone biosynthesis pathway, and, furthermore, potential and related mutation genes were found. Aldo-keto reductase family 1 member C3 (AKR1C3), an oxidoreductase, was considered as a candidate gene bringing about human infertility most probably after analyzing this pathway.


·It's commonest for oxidoreductase-causative genes, which are mainly responsible for generating steroid hormone, to be mutated in infertility, and these genes maybe include AKR1C3.

Key words: infertility, big data, oxidoreductase, steroid hormone biosynthesis, AKR1C3

CLC Number: