
Journal of International Reproductive Health/Family Planning ›› 2021, Vol. 40 ›› Issue (2): 121-125.doi: 10.12280/gjszjk.20200412
• Review • Previous Articles Next Articles
LANG Peng, SHI Xiao-dan, ZHANG Jun-qiang△(
)
Received:2020-07-14
Published:2021-03-15
Online:2021-03-24
Contact:
ZHANG Jun-qiang
E-mail:junqianz@aliyun.com
LANG Peng, SHI Xiao-dan, ZHANG Jun-qiang. Precision Medicine in the Field of Assisted Reproduction[J]. Journal of International Reproductive Health/Family Planning, 2021, 40(2): 121-125.
Add to citation manager EndNote|Ris|BibTeX
| [1] |
König IR, Fuchs O, Hansen G, et al. What is precision medicine?[J]. Eur Respir J, 2017,50(4):1700391. doi: 10.1183/13993003.00391-2017.
doi: 10.1183/13993003.00391-2017 URL pmid: 29051268 |
| [2] | 徐鹏辉. 美国启动精准医疗计划[J]. 世界复合医学, 2015(1):44-46. |
| [3] |
Lizneva D, Suturina L, Walker W, et al. Criteria, prevalence, and phenotypes of polycystic ovary syndrome[J]. Fertil Steril, 2016,106(1):6-15. doi: 10.1016/j.fertnstert.2016.05.003.
doi: 10.1016/j.fertnstert.2016.05.003 URL pmid: 27233760 |
| [4] |
Escobar-Morreale HF. Polycystic ovary syndrome: definition, aetiology, diagnosis and treatment[J]. Nat Rev Endocrinol, 2018,14(5):270-284. doi: 10.1038/nrendo.2018.24.
doi: 10.1038/nrendo.2018.24 URL pmid: 29569621 |
| [5] |
Xu JE, Hao C, Ren CE, et al. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3,2p21 and 9q33.3[J]. Nat Genet, 2011,43(1):55-59. doi: 10.1038/ng.732.
doi: 10.1038/ng.732 URL pmid: 21151128 |
| [6] |
Shi Y, Zhao H, Shi Y, et al. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome[J]. Nat Genet, 2012,44(9):1020-1025. doi: 10.1038/ng.2384.
doi: 10.1038/ng.2384 URL pmid: 22885925 |
| [7] |
Day FR, Hinds DA, Tung JY, et al. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome[J]. Nat Commun, 2015,6:8464. doi: 10.1038/ncomms9464.
doi: 10.1038/ncomms9464 URL pmid: 26416764 |
| [8] |
Jones MR, Brower MA, Xu N, et al. Systems Genetics Reveals the Functional Context of PCOS Loci and Identifies Genetic and Molecular Mechanisms of Disease Heterogeneity[J]. PLoS Genet, 2015,11(8):e1005455. doi: 10.1371/journal.pgen.1005455.
doi: 10.1371/journal.pgen.1005455 URL pmid: 26305227 |
| [9] |
Chen B, Xu P, Wang J, et al. The role of MiRNA in polycystic ovary syndrome (PCOS)[J]. Gene, 2019,706:91-96. doi: 10.1016/j.gene.2019.04.082.
doi: 10.1016/j.gene.2019.04.082 URL pmid: 31054362 |
| [10] |
McAllister JM, Han AX, Modi BP, et al. miRNA Profiling Reveals miRNA-130b-3p Mediates DENND1A Variant 2 Expression and Androgen Biosynjournal[J]. Endocrinology, 2019,160(8):1964-1981. doi: 10.1210/en.2019-00013.
doi: 10.1210/en.2019-00013 URL pmid: 31184707 |
| [11] |
Mao Z, Fan L, Yu Q, et al. Abnormality of Klotho Signaling Is Involved in Polycystic Ovary Syndrome[J]. Reprod Sci, 2018,25(3):372-383. doi: 10.1177/1933719117715129.
doi: 10.1177/1933719117715129 URL pmid: 28673204 |
| [12] |
Wang M, Sun J, Xu B, et al. Functional Characterization of MicroRNA-27a-3p Expression in Human Polycystic Ovary Syndrome[J]. Endocrinology, 2018,159(1):297-309. doi: 10.1210/en.2017-00219.
doi: 10.1210/en.2017-00219 URL pmid: 29029022 |
| [13] |
Feng R, Sang Q, Kuang Y, et al. Mutations in TUBB8 and Human Oocyte Meiotic Arrest[J]. N Engl J Med, 2016,374(3):223-232. doi: 10.1056/NEJMoa1510791.
doi: 10.1056/NEJMoa1510791 URL pmid: 26789871 |
| [14] |
Chen B, Zhang Z, Sun X, et al. Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest[J]. Am J Hum Genet, 2017,101(4):609-615. doi: 10.1016/j.ajhg.2017.08.018.
doi: 10.1016/j.ajhg.2017.08.018 URL pmid: 28965849 |
| [15] |
Xu Y, Shi Y, Fu J, et al. Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest[J]. Am J Hum Genet, 2016,99(3):744-752. doi: 10.1016/j.ajhg.2016.06.024.
doi: 10.1016/j.ajhg.2016.06.024 URL pmid: 27545678 |
| [16] |
Sang Q, Li B, Kuang Y, et al. Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility[J]. Am J Hum Genet, 2018,102(4):649-657. doi: 10.1016/j.ajhg.2018.02.015.
doi: 10.1016/j.ajhg.2018.02.015 URL pmid: 29606300 |
| [17] | Sang Q, Zhang Z, Shi J, et al. A pannexin 1 channelopathy causes human oocyte death[J]. Sci Transl Med, 2019,11(485):eaav8731. doi: 10.1126/scitranslmed.aav8731. |
| [18] |
Xu Q, Xiang Y, Wang Q, et al. SETD2 regulates the maternal epigenome, genomic imprinting and embryonic development[J]. Nat Genet, 2019,51(5):844-856. doi: 10.1038/s41588-019-0398-7.
doi: 10.1038/s41588-019-0398-7 URL pmid: 31040401 |
| [19] |
Tournaye H, Krausz C, Oates RD. Novel concepts in the aetiology of male reproductive impairment[J]. Lancet Diabetes Endocrinol, 2017,5(7):544-553. doi: 10.1016/S2213-8587(16)30040-7.
doi: 10.1016/S2213-8587(16)30040-7 URL pmid: 27395771 |
| [20] |
Ferlin A, Dipresa S, Delbarba A, et al. Contemporary genetics-based diagnostics of male infertility[J]. Expert Rev Mol Diagn, 2019,19(7):623-633. doi: 10.1080/14737159.2019.1633917.
doi: 10.1080/14737159.2019.1633917 URL pmid: 31215260 |
| [21] |
Barceló M, Mata A, Bassas L, et al. Exosomal microRNAs in seminal plasma are markers of the origin of azoospermia and can predict the presence of sperm in testicular tissue[J]. Hum Reprod, 2018,33(6):1087-1098. doi: 10.1093/humrep/dey072.
doi: 10.1093/humrep/dey072 URL pmid: 29635626 |
| [22] |
Bieniek JM, Drabovich AP, Lo KC. Seminal biomarkers for the evaluation of male infertility[J]. Asian J Androl, 2016,18(3):426-433. doi: 10.4103/1008-682X.175781.
doi: 10.4103/1008-682X.175781 URL pmid: 26975492 |
| [23] |
Samanta L, Agarwal A, Swain N, et al. Proteomic Signatures of Sperm Mitochondria in Varicocele: Clinical Use as Biomarkers of Varicocele Associated Infertility[J]. J Urol, 2018,200(2):414-422. doi: 10.1016/j.juro.2018.03.009.
doi: 10.1016/j.juro.2018.03.009 URL pmid: 29530785 |
| [24] |
Treff NR, Zimmerman RS. Advances in Preimplantation Genetic Testing for Monogenic Disease and Aneuploidy[J]. Annu Rev Genomics Hum Genet, 2017,18:189-200. doi: 10.1146/annurev-genom-091416-035508.
doi: 10.1146/annurev-genom-091416-035508 URL pmid: 28498723 |
| [25] |
Zong C, Lu S, Chapman AR, et al. Genome-wide detection of single-nucleotide and copy-number variations of a single human cell[J]. Science, 2012,338(6114):1622-1626. doi: 10.1126/science.1229164.
doi: 10.1126/science.1229164 URL pmid: 23258894 |
| [26] |
Li W, Ma Y, Yu S, et al. The mutation-free embryo for in vitro fertilization selected by MALBAC-PGD resulted in a healthy live birth from a family carrying PKD 1 mutation[J]. J Assist Reprod Genet, 2017,34(12):1653-1658. doi: 10.1007/s10815-017-1018-z.
doi: 10.1007/s10815-017-1018-z URL pmid: 28825164 |
| [27] |
Yan L, Huang L, Xu L, et al. Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses[J]. Proc Natl Acad Sci U S A, 2015,112(52):15964-15969. doi: 10.1073/pnas.1523297113.
doi: 10.1073/pnas.1523297113 URL pmid: 26712022 |
| [28] |
Miao H, Zhou J, Yang Q, et al. Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis[J]. Hereditas, 2018,155:32. doi: 10.1186/s41065-018-0069-1.
doi: 10.1186/s41065-018-0069-1 URL pmid: 30279644 |
| [29] |
Guo H, Zhu P, Yan L, et al. The DNA methylation landscape of human early embryos[J]. Nature, 2014,511(7511):606-610. doi: 10.1038/nature13544.
doi: 10.1038/nature13544 URL |
| [30] |
Zhu P, Guo H, Ren Y, et al. Single-cell DNA methylome sequencing of human preimplantation embryos[J]. Nat Genet, 2018,50(1):12-19. doi: 10.1038/s41588-017-0007-6.
doi: 10.1038/s41588-017-0007-6 URL pmid: 29255258 |
| [31] |
Xue Z, Huang K, Cai C, et al. Genetic programs in human and mouse early embryos revealed by single-cell RNA sequencing[J]. Nature, 2013,500(7464):593-597. doi: 10.1038/nature12364.
doi: 10.1038/nature12364 URL pmid: 23892778 |
| [32] |
Yu HT, Yang Q, Sun XX, et al. Association of birth defects with the mode of assisted reproductive technology in a Chinese data-linkage cohort[J]. Fertil Steril, 2018,109(5):849-856. doi: 10.1016/j.fertnstert.2018.01.012.
doi: 10.1016/j.fertnstert.2018.01.012 URL pmid: 29778384 |
| [33] |
Acharya KS, Acharya CR, Bishop K, et al. Freezing of all embryos in in vitro fertilization is beneficial in high responders, but not intermediate and low responders: an analysis of 82,935 cycles from the Society for Assisted Reproductive Technology registry[J]. Fertil Steril, 2018,110(5):880-887. doi: 10.1016/j.fertnstert.2018.05.024.
doi: 10.1016/j.fertnstert.2018.05.024 URL pmid: 30139718 |
| [34] |
Storr A, Venetis CA, Cooke S, et al. Inter-observer and intra-observer agreement between embryologists during selection of a single Day 5 embryo for transfer: a multicenter study[J]. Hum Reprod, 2017,32(2):307-314. doi: 10.1093/humrep/dew330.
doi: 10.1093/humrep/dew330 URL pmid: 28031323 |
| [35] |
Simopoulou M, Sfakianoudis K, Maziotis E, et al. Are computational applications the "crystal ball" in the IVF laboratory? The evolution from mathematics to artificial intelligence[J]. J Assist Reprod Genet, 2018,35(9):1545-1557. doi: 10.1007/s10815-018-1266-6.
doi: 10.1007/s10815-018-1266-6 URL pmid: 30054845 |
| [36] |
Saeedi P, Yee D, Au J, et al. Automatic Identification of Human Blastocyst Components via Texture[J]. IEEE Trans Biomed Eng, 2017,64(12):2968-2978. doi: 10.1109/TBME.2017.2759665.
doi: 10.1109/TBME.2017.2759665 URL pmid: 28991729 |
| [37] |
Tran D, Cooke S, Illingworth PJ, et al. Deep learning as a predictive tool for fetal heart pregnancy following time-lapse incubation and blastocyst transfer[J]. Hum Reprod, 2019,34(6):1011-1018. doi: 10.1093/humrep/dez064.
doi: 10.1093/humrep/dez064 URL pmid: 31111884 |
| [38] |
Khosravi P, Kazemi E, Zhan Q, et al. Deep learning enables robust assessment and selection of human blastocysts after in vitro fertilization[J]. NPJ Digit Med, 2019,2:21. doi: 10.1038/s41746-019-0096-y.
doi: 10.1038/s41746-019-0096-y URL pmid: 31304368 |
| [1] | CHEN Hai-xia, YANG Lin, MU Xiao-huan, SONG Xue-ru, TIAN Wen-yan, BAI Xiao-hong. Compound Heterozygous Mutations in SUN5 Cause Acephalic Spermatozoa: A Case Report [J]. Journal of International Reproductive Health/Family Planning, 2026, 45(4): 285-289. |
| [2] | CHEN Tian-ze, WANG Dan-dan, HONG Ju-sheng, YANG Guang-ping. Research Progress on the Growth Hormone/Insulin-Like Growth Factor-1 Axis in Regulating Male Reproductive Function [J]. Journal of International Reproductive Health/Family Planning, 2026, 45(4): 301-305. |
| [3] | LIU Jin-yu, MA Rui-hong, ZHAO Zhi-mei. Research Progress on the Animal Models and Mechanisms of Psychological Stress-Induced Reproductive Dysfunction [J]. Journal of International Reproductive Health/Family Planning, 2026, 45(4): 306-310. |
| [4] | WEI Qian, HE Yu-jie. Research Progress on Comorbidity Mechanisms of Mental Disorders and Reproductive System Diseases [J]. Journal of International Reproductive Health/Family Planning, 2026, 45(3): 236-241. |
| [5] | SUN Ning, YANG Jin-ji, HU Chun-xiu. Mechanism and Application of Gratitude Intervention in Psychological Adjustment of Infertile Individuals [J]. Journal of International Reproductive Health/Family Planning, 2026, 45(3): 242-246. |
| [6] | LIANG Li-chun, MO Zhi-yuan, ZHONG Qing-mei, HUANG Jing, TANG Gui-yan. Research Progress on Screening for Female Pelvic Floor Dysfunction [J]. Journal of International Reproductive Health/Family Planning, 2026, 45(3): 259-264. |
| [7] | KONG Jing, YU Lan, ZHANG Cui-lian. The Impact of Vitamin D on Assisted Reproductive Technology Outcomes in Women with Polycystic Ovary Syndrome [J]. Journal of International Reproductive Health/Family Planning, 2026, 45(2): 154-159. |
| [8] | FANG Jing, BAI Xiao-xia. Research Progress on Intrahepatic Cholestasis of Pregnancy [J]. Journal of International Reproductive Health/Family Planning, 2026, 45(2): 172-176. |
| [9] | ZHOU Jun, PEI Jing-liang, PANG Hai-yan, ZHANG Mao-xiang, TIAN Yan-ya, WANG Gui-ling. A Case of Male Infertility Resulting from A Complex Chromosomal Rearrangement Involving Seven Chromosomes [J]. Journal of International Reproductive Health/Family Planning, 2026, 45(1): 23-27. |
| [10] | CHEN Jia-lang, ZHANG Yun-shan, WANG Guang-teng, PANG Ze-hui. The Impact of Sperm DNA Fragmentation on Intrauterine Insemination Outcomes and Intervention Strategies [J]. Journal of International Reproductive Health/Family Planning, 2026, 45(1): 40-44. |
| [11] | HUANG Ru, JIN Meng-han, ZHONG Yu-nong, WANG Ke-han, MENG Qing-xia. Research Progress on DNA Methylation of Gametes, Embryos and Offspring from Assisted Reproductive Technology [J]. Journal of International Reproductive Health/Family Planning, 2026, 45(1): 45-48. |
| [12] | GONG Zheng, GONG Chun-ming, FU Yu, XIA Tian. The Theoretical Connotation and Modern Application Implications of "Infertility Caused by Gong-Han" [J]. Journal of International Reproductive Health/Family Planning, 2025, 44(6): 481-485. |
| [13] | SHI Xue-ying, YANG Jin-ji, FU Hao, HU Chun-xiu. The Mechanism of High Fat Diet-Induced Sperm Morphological Abnormalities [J]. Journal of International Reproductive Health/Family Planning, 2025, 44(6): 490-495. |
| [14] | YANG Jing, JI Dong-mei. Progress in Enucleated Oocyte Donation and Its Clinical Application [J]. Journal of International Reproductive Health/Family Planning, 2025, 44(6): 496-500. |
| [15] | CUI Yu-fei, JIA Dong-ling, WANG Li-yan, LI Fu-lan, LIU Hui-hui, ZHANG Li-hong, HU Rong, HU Jun-ping. Mindfulness-Based Interventions in Patients Undergoing In Vitro Fertilization-Embryo Transfer: A Scoping Review [J]. Journal of International Reproductive Health/Family Planning, 2025, 44(5): 371-376. |
| Viewed | ||||||
|
Full text |
|
|||||
|
Abstract |
|
|||||