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

doi:10.3969/j.issn.1674-8115.2021.10.001

Abstract

Abstract: Objective

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

Methods

·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.

Results

·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.

Conclusion

·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:

R711.6

Jia-le WEI, Xin-yi LIU, Shao-yong LU, Xue-feng LU, Jian ZHANG. Research of key causative genes and associated pathway in infertility based on big data of biological medicine[J]. JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE), 2021, 41(10): 1277-1284.

Figures/Tables 4

TrendMD

References 30

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Homo sapiens	Mus musculus	Pathogenicity
CYP11A1	Cyp11a1	H
CYP17A1	Cyp17a1	H
STS
SULT2B1	Sult2b1
CYP21A2	Cyp21a1	H
HSD3B2	Hsd3b2	H
SRD5A1	Srd5a1	M
SRD5A2	Srd5a2	H
SRD5A3	Srd5a3
AKR1C3	Akr1c18	M
CYP1B1	Cyp1b1
CYP11B1/CYP11B2	Cyp11b1/Cyp11b2	H （CYP11B1）
AKR1D1	Akr1d1
AKR1C4	Akr1c6
HSD11B1	Hsd11b1
HSD11B2	Hsd11b2
CYP7B1	Cyp7b1	M
SULT1E1	Sult1e1	M
HSD17B1	Hsd17b1	M
COMT	Comt	M
HSD17B3	Hsd17b3	H
DHRS11	Dhrs11
HSD17B2	Hsd17b2
HSD17B6	Hsd17b6
HSD17B7	Hsd17b7
HSD17B8	H2-Ke6
HSD17B12	Hsd17b12
CYP1A1	Cyp1a1
CYP1A2	Cyp1a2
CYP3A5	Cyp3a11
CYP3A7	CYP3a13
CYP2E1	Cyp2e1
CYP3A4
CYP19A1	Cyp19a1	H
CYP7A1	Cyp7a1
UGT	Slc35a2

Homo sapiens	Mus musculus	Pathogenicity
CYP11A1	Cyp11a1	H
CYP17A1	Cyp17a1	H
STS
SULT2B1	Sult2b1
CYP21A2	Cyp21a1	H
HSD3B2	Hsd3b2	H
SRD5A1	Srd5a1	M
SRD5A2	Srd5a2	H
SRD5A3	Srd5a3
AKR1C3	Akr1c18	M
CYP1B1	Cyp1b1
CYP11B1/CYP11B2	Cyp11b1/Cyp11b2	H （CYP11B1）
AKR1D1	Akr1d1
AKR1C4	Akr1c6
HSD11B1	Hsd11b1
HSD11B2	Hsd11b2
CYP7B1	Cyp7b1	M
SULT1E1	Sult1e1	M
HSD17B1	Hsd17b1	M
COMT	Comt	M
HSD17B3	Hsd17b3	H
DHRS11	Dhrs11
HSD17B2	Hsd17b2
HSD17B6	Hsd17b6
HSD17B7	Hsd17b7
HSD17B8	H2-Ke6
HSD17B12	Hsd17b12
CYP1A1	Cyp1a1
CYP1A2	Cyp1a2
CYP3A5	Cyp3a11
CYP3A7	CYP3a13
CYP2E1	Cyp2e1
CYP3A4
CYP19A1	Cyp19a1	H
CYP7A1	Cyp7a1
UGT	Slc35a2

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